Difference between revisions of "Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray"

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'''Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray'''
 
'''Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray'''
  
'''Table 1:''' Pediatric CNS Tumors. Table derived from CGC CNS Workgroup 2015-2018.
+
'''Table 1:''' Pediatric CNS Tumors. CGC CNS Workgroup 2015-2018. Table derived from Neill et al., 2020 [[https://pubmed.ncbi.nlm.nih.gov/32203924/ PMID: 32203924]] with permission from Cancer Genetics.
 
{| class="wikitable"
 
{| class="wikitable"
 
|-
 
|-
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|Pilocytic astrocytoma/pilomyxoid astrocytoma
 
|Pilocytic astrocytoma/pilomyxoid astrocytoma
 
|Some tumors show polysomy 7; other polysomies more common in adult PA
 
|Some tumors show polysomy 7; other polysomies more common in adult PA
|'''Fusions:''' KIAA1549-BRAF fusion (via 3'BRAF duplication), other BRAF partners reported; NTRK fusions (rare); FGFR1 fusions (rare) <br>
+
|'''Fusions:''' [[KIAA1549]]-[[BRAF]] fusion (via 3'[[BRAF]] duplication), other [[BRAF]] partners reported; NTRK fusions (rare); [[FGFR1]] fusions (rare) <br>
'''Mutations:''' BRAF V600E (particularly extra-cerebellar tumors); FGFR1 (midline PA); NF1 (esp. germline), other MAPK pathway mutations <br>
+
'''Mutations:''' [[BRAF]] V600E (particularly extra-cerebellar tumors); [[FGFR1]] (midline PA); [[NF1]] (esp. germline), other MAPK pathway mutations <br>
'''Loss:''' NF1 in optic pathway PA
+
'''Loss:''' [[NF1]] in optic pathway PA
 
|Classic PA are cerebellar (most commonly associated with BRAF duplication); PA in patients with germline NF1 alterations often develop as optic gliomas;Surgical resection can be curative; PMA generally more aggressive than PA; BRAF fusions and BRAF mutations generally are mutually exclusive
 
|Classic PA are cerebellar (most commonly associated with BRAF duplication); PA in patients with germline NF1 alterations often develop as optic gliomas;Surgical resection can be curative; PMA generally more aggressive than PA; BRAF fusions and BRAF mutations generally are mutually exclusive
 
|<ref>{{Cite journal|last=Sievert|first=Angela J.|last2=Jackson|first2=Eric M.|last3=Gai|first3=Xiaowu|last4=Hakonarson|first4=Hakon|last5=Judkins|first5=Alexander R.|last6=Resnick|first6=Adam C.|last7=Sutton|first7=Leslie N.|last8=Storm|first8=Phillip B.|last9=Shaikh|first9=Tamim H.|date=2009-07|title=Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene|url=https://pubmed.ncbi.nlm.nih.gov/19016743|journal=Brain Pathology (Zurich, Switzerland)|volume=19|issue=3|pages=449–458|doi=10.1111/j.1750-3639.2008.00225.x|issn=1750-3639|pmc=2850204|pmid=19016743}}</ref>PMID:19016743; <ref>{{Cite journal|last=Jones|first=David T. W.|last2=Ichimura|first2=Koichi|last3=Liu|first3=Lu|last4=Pearson|first4=Danita M.|last5=Plant|first5=Karen|last6=Collins|first6=V. Peter|date=2006-11|title=Genomic Analysis of Pilocytic Astrocytomas at 0.97 Mb Resolution Shows an Increasing Tendency Toward Chromosomal Copy Number Change With Age|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761618/|journal=Journal of neuropathology and experimental neurology|volume=65|issue=11|pages=1049–1058|doi=10.1097/01.jnen.0000240465.33628.87|issn=0022-3069|pmc=2761618|pmid=17086101}}</ref>PMCID:2761618; <ref>{{Cite journal|last=Bar|first=Eli E.|last2=Lin|first2=Alex|last3=Tihan|first3=Tarik|last4=Burger|first4=Peter C.|last5=Eberhart|first5=Charles G.|date=2008-09|title=Frequent gains at chromosome 7q34 involving BRAF in pilocytic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/18716556|journal=Journal of Neuropathology and Experimental Neurology|volume=67|issue=9|pages=878–887|doi=10.1097/NEN.0b013e3181845622|issn=0022-3069|pmid=18716556}}</ref>PMID:18716556 <ref name=":0">{{Cite journal|last=Appin|first=Christina L.|last2=Brat|first2=Daniel J.|date=2015-01|title=Molecular pathways in gliomagenesis and their relevance to neuropathologic diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/25461780|journal=Advances in Anatomic Pathology|volume=22|issue=1|pages=50–58|doi=10.1097/PAP.0000000000000048|issn=1533-4031|pmid=25461780}}</ref>PMID:25461780  <ref name=":1">{{Cite journal|last=Venneti|first=Sriram|last2=Huse|first2=Jason T.|date=2015-03|title=The evolving molecular genetics of low-grade glioma|url=https://pubmed.ncbi.nlm.nih.gov/25664944|journal=Advances in Anatomic Pathology|volume=22|issue=2|pages=94–101|doi=10.1097/PAP.0000000000000049|issn=1533-4031|pmc=4667550|pmid=25664944}}</ref>PMID:25664944; <ref name=":2">{{Cite journal|last=Fontebasso|first=Adam M.|last2=Shirinian|first2=Margret|last3=Khuong-Quang|first3=Dong-Anh|last4=Bechet|first4=Denise|last5=Gayden|first5=Tenzin|last6=Kool|first6=Marcel|last7=De Jay|first7=Nicolas|last8=Jacob|first8=Karine|last9=Gerges|first9=Noha|date=2015-10-13|title=Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age|url=https://pubmed.ncbi.nlm.nih.gov/26378811|journal=Oncotarget|volume=6|issue=31|pages=31844–31856|doi=10.18632/oncotarget.5571|issn=1949-2553|pmc=4741644|pmid=26378811}}</ref>PMID:26378811 <ref>{{Cite journal|last=Rodriguez|first=Fausto J.|last2=Ligon|first2=Azra H.|last3=Horkayne-Szakaly|first3=Iren|last4=Rushing|first4=Elisabeth J.|last5=Ligon|first5=Keith L.|last6=Vena|first6=Natalie|last7=Garcia|first7=Denise I.|last8=Cameron|first8=J. Douglas|last9=Eberhart|first9=Charles G.|date=2012-9|title=BRAF Duplications and MAPK Pathway Activation Are Frequent in Gliomas of the Optic Nerve Proper|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429698/|journal=Journal of neuropathology and experimental neurology|volume=71|issue=9|pages=789–794|doi=10.1097/NEN.0b013e3182656ef8|issn=0022-3069|pmc=3429698|pmid=22892521}}</ref>PMCID:3429698; <ref>{{Cite journal|last=Jones|first=David T. W.|last2=Hutter|first2=Barbara|last3=Jäger|first3=Natalie|last4=Korshunov|first4=Andrey|last5=Kool|first5=Marcel|last6=Warnatz|first6=Hans-Jörg|last7=Zichner|first7=Thomas|last8=Lambert|first8=Sally R.|last9=Ryzhova|first9=Marina|date=2013-08|title=Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/23817572|journal=Nature Genetics|volume=45|issue=8|pages=927–932|doi=10.1038/ng.2682|issn=1546-1718|pmc=3951336|pmid=23817572}}</ref>PMID:23817572; <ref name=":3">{{Cite journal|last=Zhang|first=Jinghui|last2=Wu|first2=Gang|last3=Miller|first3=Claudia P.|last4=Tatevossian|first4=Ruth G.|last5=Dalton|first5=James D.|last6=Tang|first6=Bo|last7=Orisme|first7=Wilda|last8=Punchihewa|first8=Chandanamali|last9=Parker|first9=Matthew|date=2013-06|title=Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas|url=https://pubmed.ncbi.nlm.nih.gov/23583981|journal=Nature Genetics|volume=45|issue=6|pages=602–612|doi=10.1038/ng.2611|issn=1546-1718|pmc=3727232|pmid=23583981}}</ref>PMID:23583981 <ref>{{Cite journal|last=Jones|first=David T. W.|last2=Kocialkowski|first2=Sylvia|last3=Liu|first3=Lu|last4=Pearson|first4=Danita M.|last5=Bäcklund|first5=L. Magnus|last6=Ichimura|first6=Koichi|last7=Collins|first7=V. Peter|date=2008-11-01|title=Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas|url=https://pubmed.ncbi.nlm.nih.gov/18974108|journal=Cancer Research|volume=68|issue=21|pages=8673–8677|doi=10.1158/0008-5472.CAN-08-2097|issn=1538-7445|pmc=2577184|pmid=18974108}}</ref>PMID:18974108; <ref>{{Cite journal|last=Colin|first=C.|last2=Padovani|first2=L.|last3=Chappé|first3=C.|last4=Mercurio|first4=S.|last5=Scavarda|first5=D.|last6=Loundou|first6=A.|last7=Frassineti|first7=F.|last8=André|first8=N.|last9=Bouvier|first9=C.|date=2013-10|title=Outcome analysis of childhood pilocytic astrocytomas: a retrospective study of 148 cases at a single institution|url=https://pubmed.ncbi.nlm.nih.gov/23278243|journal=Neuropathology and Applied Neurobiology|volume=39|issue=6|pages=693–705|doi=10.1111/nan.12013|issn=1365-2990|pmid=23278243}}</ref>PMID:23278243; <ref name=":4">{{Cite journal|last=Schindler|first=Genevieve|last2=Capper|first2=David|last3=Meyer|first3=Jochen|last4=Janzarik|first4=Wibke|last5=Omran|first5=Heymut|last6=Herold-Mende|first6=Christel|last7=Schmieder|first7=Kirsten|last8=Wesseling|first8=Pieter|last9=Mawrin|first9=Christian|date=2011-03|title=Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/21274720|journal=Acta Neuropathologica|volume=121|issue=3|pages=397–405|doi=10.1007/s00401-011-0802-6|issn=1432-0533|pmid=21274720}}</ref>PMID:21274720
 
|<ref>{{Cite journal|last=Sievert|first=Angela J.|last2=Jackson|first2=Eric M.|last3=Gai|first3=Xiaowu|last4=Hakonarson|first4=Hakon|last5=Judkins|first5=Alexander R.|last6=Resnick|first6=Adam C.|last7=Sutton|first7=Leslie N.|last8=Storm|first8=Phillip B.|last9=Shaikh|first9=Tamim H.|date=2009-07|title=Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene|url=https://pubmed.ncbi.nlm.nih.gov/19016743|journal=Brain Pathology (Zurich, Switzerland)|volume=19|issue=3|pages=449–458|doi=10.1111/j.1750-3639.2008.00225.x|issn=1750-3639|pmc=2850204|pmid=19016743}}</ref>PMID:19016743; <ref>{{Cite journal|last=Jones|first=David T. W.|last2=Ichimura|first2=Koichi|last3=Liu|first3=Lu|last4=Pearson|first4=Danita M.|last5=Plant|first5=Karen|last6=Collins|first6=V. Peter|date=2006-11|title=Genomic Analysis of Pilocytic Astrocytomas at 0.97 Mb Resolution Shows an Increasing Tendency Toward Chromosomal Copy Number Change With Age|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761618/|journal=Journal of neuropathology and experimental neurology|volume=65|issue=11|pages=1049–1058|doi=10.1097/01.jnen.0000240465.33628.87|issn=0022-3069|pmc=2761618|pmid=17086101}}</ref>PMCID:2761618; <ref>{{Cite journal|last=Bar|first=Eli E.|last2=Lin|first2=Alex|last3=Tihan|first3=Tarik|last4=Burger|first4=Peter C.|last5=Eberhart|first5=Charles G.|date=2008-09|title=Frequent gains at chromosome 7q34 involving BRAF in pilocytic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/18716556|journal=Journal of Neuropathology and Experimental Neurology|volume=67|issue=9|pages=878–887|doi=10.1097/NEN.0b013e3181845622|issn=0022-3069|pmid=18716556}}</ref>PMID:18716556 <ref name=":0">{{Cite journal|last=Appin|first=Christina L.|last2=Brat|first2=Daniel J.|date=2015-01|title=Molecular pathways in gliomagenesis and their relevance to neuropathologic diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/25461780|journal=Advances in Anatomic Pathology|volume=22|issue=1|pages=50–58|doi=10.1097/PAP.0000000000000048|issn=1533-4031|pmid=25461780}}</ref>PMID:25461780  <ref name=":1">{{Cite journal|last=Venneti|first=Sriram|last2=Huse|first2=Jason T.|date=2015-03|title=The evolving molecular genetics of low-grade glioma|url=https://pubmed.ncbi.nlm.nih.gov/25664944|journal=Advances in Anatomic Pathology|volume=22|issue=2|pages=94–101|doi=10.1097/PAP.0000000000000049|issn=1533-4031|pmc=4667550|pmid=25664944}}</ref>PMID:25664944; <ref name=":2">{{Cite journal|last=Fontebasso|first=Adam M.|last2=Shirinian|first2=Margret|last3=Khuong-Quang|first3=Dong-Anh|last4=Bechet|first4=Denise|last5=Gayden|first5=Tenzin|last6=Kool|first6=Marcel|last7=De Jay|first7=Nicolas|last8=Jacob|first8=Karine|last9=Gerges|first9=Noha|date=2015-10-13|title=Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age|url=https://pubmed.ncbi.nlm.nih.gov/26378811|journal=Oncotarget|volume=6|issue=31|pages=31844–31856|doi=10.18632/oncotarget.5571|issn=1949-2553|pmc=4741644|pmid=26378811}}</ref>PMID:26378811 <ref>{{Cite journal|last=Rodriguez|first=Fausto J.|last2=Ligon|first2=Azra H.|last3=Horkayne-Szakaly|first3=Iren|last4=Rushing|first4=Elisabeth J.|last5=Ligon|first5=Keith L.|last6=Vena|first6=Natalie|last7=Garcia|first7=Denise I.|last8=Cameron|first8=J. Douglas|last9=Eberhart|first9=Charles G.|date=2012-9|title=BRAF Duplications and MAPK Pathway Activation Are Frequent in Gliomas of the Optic Nerve Proper|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429698/|journal=Journal of neuropathology and experimental neurology|volume=71|issue=9|pages=789–794|doi=10.1097/NEN.0b013e3182656ef8|issn=0022-3069|pmc=3429698|pmid=22892521}}</ref>PMCID:3429698; <ref>{{Cite journal|last=Jones|first=David T. W.|last2=Hutter|first2=Barbara|last3=Jäger|first3=Natalie|last4=Korshunov|first4=Andrey|last5=Kool|first5=Marcel|last6=Warnatz|first6=Hans-Jörg|last7=Zichner|first7=Thomas|last8=Lambert|first8=Sally R.|last9=Ryzhova|first9=Marina|date=2013-08|title=Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/23817572|journal=Nature Genetics|volume=45|issue=8|pages=927–932|doi=10.1038/ng.2682|issn=1546-1718|pmc=3951336|pmid=23817572}}</ref>PMID:23817572; <ref name=":3">{{Cite journal|last=Zhang|first=Jinghui|last2=Wu|first2=Gang|last3=Miller|first3=Claudia P.|last4=Tatevossian|first4=Ruth G.|last5=Dalton|first5=James D.|last6=Tang|first6=Bo|last7=Orisme|first7=Wilda|last8=Punchihewa|first8=Chandanamali|last9=Parker|first9=Matthew|date=2013-06|title=Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas|url=https://pubmed.ncbi.nlm.nih.gov/23583981|journal=Nature Genetics|volume=45|issue=6|pages=602–612|doi=10.1038/ng.2611|issn=1546-1718|pmc=3727232|pmid=23583981}}</ref>PMID:23583981 <ref>{{Cite journal|last=Jones|first=David T. W.|last2=Kocialkowski|first2=Sylvia|last3=Liu|first3=Lu|last4=Pearson|first4=Danita M.|last5=Bäcklund|first5=L. Magnus|last6=Ichimura|first6=Koichi|last7=Collins|first7=V. Peter|date=2008-11-01|title=Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas|url=https://pubmed.ncbi.nlm.nih.gov/18974108|journal=Cancer Research|volume=68|issue=21|pages=8673–8677|doi=10.1158/0008-5472.CAN-08-2097|issn=1538-7445|pmc=2577184|pmid=18974108}}</ref>PMID:18974108; <ref>{{Cite journal|last=Colin|first=C.|last2=Padovani|first2=L.|last3=Chappé|first3=C.|last4=Mercurio|first4=S.|last5=Scavarda|first5=D.|last6=Loundou|first6=A.|last7=Frassineti|first7=F.|last8=André|first8=N.|last9=Bouvier|first9=C.|date=2013-10|title=Outcome analysis of childhood pilocytic astrocytomas: a retrospective study of 148 cases at a single institution|url=https://pubmed.ncbi.nlm.nih.gov/23278243|journal=Neuropathology and Applied Neurobiology|volume=39|issue=6|pages=693–705|doi=10.1111/nan.12013|issn=1365-2990|pmid=23278243}}</ref>PMID:23278243; <ref name=":4">{{Cite journal|last=Schindler|first=Genevieve|last2=Capper|first2=David|last3=Meyer|first3=Jochen|last4=Janzarik|first4=Wibke|last5=Omran|first5=Heymut|last6=Herold-Mende|first6=Christel|last7=Schmieder|first7=Kirsten|last8=Wesseling|first8=Pieter|last9=Mawrin|first9=Christian|date=2011-03|title=Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/21274720|journal=Acta Neuropathologica|volume=121|issue=3|pages=397–405|doi=10.1007/s00401-011-0802-6|issn=1432-0533|pmid=21274720}}</ref>PMID:21274720
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|Angiocentric glioma
 
|Angiocentric glioma
 
|Aberrations involving 6q24-q25
 
|Aberrations involving 6q24-q25
|'''Fusions:''' MYB-QKI rearrangement/deletion (classic histology)<br>
+
|'''Fusions:''' [[MYB]]-[[QKI]] rearrangement/deletion (classic histology)<br>
'''Rearrangement:''' MYB alone (atypical histology)<br>
+
'''Rearrangement:''' [[MYB]] alone (atypical histology)<br>
'''Amplification:''' MYB (atypical histology)
+
'''Amplification:''' [[MYB]] (atypical histology)
 
|Generally indolent tumors; surgical resection can be curative
 
|Generally indolent tumors; surgical resection can be curative
 
|<ref name=":5">{{Cite journal|last=Bandopadhayay|first=Pratiti|last2=Ramkissoon|first2=Lori A.|last3=Jain|first3=Payal|last4=Bergthold|first4=Guillaume|last5=Wala|first5=Jeremiah|last6=Zeid|first6=Rhamy|last7=Schumacher|first7=Steven E.|last8=Urbanski|first8=Laura|last9=O'Rourke|first9=Ryan|date=2016-03|title=MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism|url=https://pubmed.ncbi.nlm.nih.gov/26829751|journal=Nature Genetics|volume=48|issue=3|pages=273–282|doi=10.1038/ng.3500|issn=1546-1718|pmc=4767685|pmid=26829751}}</ref>PMID:26829751; <ref name=":6">{{Cite journal|last=Ramkissoon|first=Lori A.|last2=Horowitz|first2=Peleg M.|last3=Craig|first3=Justin M.|last4=Ramkissoon|first4=Shakti H.|last5=Rich|first5=Benjamin E.|last6=Schumacher|first6=Steven E.|last7=McKenna|first7=Aaron|last8=Lawrence|first8=Michael S.|last9=Bergthold|first9=Guillaume|date=2013-05-14|title=Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1|url=https://pubmed.ncbi.nlm.nih.gov/23633565|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=110|issue=20|pages=8188–8193|doi=10.1073/pnas.1300252110|issn=1091-6490|pmc=3657784|pmid=23633565}}</ref>PMID:23633565; <ref>{{Cite journal|last=Ampie|first=Leonel|last2=Choy|first2=Winward|last3=DiDomenico|first3=Joseph D.|last4=Lamano|first4=Jonathan B.|last5=Williams|first5=Christopher Kazu|last6=Kesavabhotla|first6=Kartik|last7=Mao|first7=Qinwen|last8=Bloch|first8=Orin|date=2016-06|title=Clinical attributes and surgical outcomes of angiocentric gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26778052|journal=Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia|volume=28|pages=117–122|doi=10.1016/j.jocn.2015.11.015|issn=1532-2653|pmid=26778052}}</ref>PMID:26778052 <ref name=":3" />PMID:23583981
 
|<ref name=":5">{{Cite journal|last=Bandopadhayay|first=Pratiti|last2=Ramkissoon|first2=Lori A.|last3=Jain|first3=Payal|last4=Bergthold|first4=Guillaume|last5=Wala|first5=Jeremiah|last6=Zeid|first6=Rhamy|last7=Schumacher|first7=Steven E.|last8=Urbanski|first8=Laura|last9=O'Rourke|first9=Ryan|date=2016-03|title=MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism|url=https://pubmed.ncbi.nlm.nih.gov/26829751|journal=Nature Genetics|volume=48|issue=3|pages=273–282|doi=10.1038/ng.3500|issn=1546-1718|pmc=4767685|pmid=26829751}}</ref>PMID:26829751; <ref name=":6">{{Cite journal|last=Ramkissoon|first=Lori A.|last2=Horowitz|first2=Peleg M.|last3=Craig|first3=Justin M.|last4=Ramkissoon|first4=Shakti H.|last5=Rich|first5=Benjamin E.|last6=Schumacher|first6=Steven E.|last7=McKenna|first7=Aaron|last8=Lawrence|first8=Michael S.|last9=Bergthold|first9=Guillaume|date=2013-05-14|title=Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1|url=https://pubmed.ncbi.nlm.nih.gov/23633565|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=110|issue=20|pages=8188–8193|doi=10.1073/pnas.1300252110|issn=1091-6490|pmc=3657784|pmid=23633565}}</ref>PMID:23633565; <ref>{{Cite journal|last=Ampie|first=Leonel|last2=Choy|first2=Winward|last3=DiDomenico|first3=Joseph D.|last4=Lamano|first4=Jonathan B.|last5=Williams|first5=Christopher Kazu|last6=Kesavabhotla|first6=Kartik|last7=Mao|first7=Qinwen|last8=Bloch|first8=Orin|date=2016-06|title=Clinical attributes and surgical outcomes of angiocentric gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26778052|journal=Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia|volume=28|pages=117–122|doi=10.1016/j.jocn.2015.11.015|issn=1532-2653|pmid=26778052}}</ref>PMID:26778052 <ref name=":3" />PMID:23583981
Line 40: Line 40:
 
|Only 30% are abnormal by karyotype <br>
 
|Only 30% are abnormal by karyotype <br>
 
'''Gain:''' polysomy 7
 
'''Gain:''' polysomy 7
|'''Mutations:''' BRAF V600E in 20-60% of cases (can be concurrent with CDKN2A homozygous deletion)<br>
+
|'''Mutations:''' [[BRAF]] V600E in 20-60% of cases (can be concurrent with [[CDKN2A]] homozygous deletion)<br>
'''Fusions:''' KIAA1549-BRAF
+
'''Fusions:''' [[KIAA1549]]-[[BRAF]]
 
|Generally indolent tumors for which  surgical resection can be curative
 
|Generally indolent tumors for which  surgical resection can be curative
 
|<ref name=":0" />PMID:25461780; <ref name=":3" />PMID:23583981; <ref>{{Cite journal|last=Yin|first=Xiao Lu|last2=Hui|first2=Angela Bik-Yu|last3=Pang|first3=Jesse Chung-Sean|last4=Poon|first4=Wai Sang|last5=Ng|first5=Ho Keung|date=2002-04-01|title=Genome-wide survey for chromosomal imbalances in ganglioglioma using comparative genomic hybridization|url=https://pubmed.ncbi.nlm.nih.gov/11996800|journal=Cancer Genetics and Cytogenetics|volume=134|issue=1|pages=71–76|doi=10.1016/s0165-4608(01)00611-2|issn=0165-4608|pmid=11996800}}</ref>PMID:11996800 <ref>{{Cite journal|last=Dahiya|first=Sonika|last2=Haydon|first2=Devon H.|last3=Alvarado|first3=David|last4=Gurnett|first4=Christina A.|last5=Gutmann|first5=David H.|last6=Leonard|first6=Jeffrey R.|date=2013-06|title=BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/23609006|journal=Acta Neuropathologica|volume=125|issue=6|pages=901–910|doi=10.1007/s00401-013-1120-y|issn=1432-0533|pmid=23609006}}</ref>PMID:23609006; <ref name=":7">{{Cite journal|last=Pekmezci|first=Melike|last2=Villanueva-Meyer|first2=Javier E.|last3=Goode|first3=Benjamin|last4=Van Ziffle|first4=Jessica|last5=Onodera|first5=Courtney|last6=Grenert|first6=James P.|last7=Bastian|first7=Boris C.|last8=Chamyan|first8=Gabriel|last9=Maher|first9=Ossama M.|date=2018-06-07|title=The genetic landscape of ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/29880043|journal=Acta Neuropathologica Communications|volume=6|issue=1|pages=47|doi=10.1186/s40478-018-0551-z|issn=2051-5960|pmc=5992851|pmid=29880043}}</ref>PMID:29880043
 
|<ref name=":0" />PMID:25461780; <ref name=":3" />PMID:23583981; <ref>{{Cite journal|last=Yin|first=Xiao Lu|last2=Hui|first2=Angela Bik-Yu|last3=Pang|first3=Jesse Chung-Sean|last4=Poon|first4=Wai Sang|last5=Ng|first5=Ho Keung|date=2002-04-01|title=Genome-wide survey for chromosomal imbalances in ganglioglioma using comparative genomic hybridization|url=https://pubmed.ncbi.nlm.nih.gov/11996800|journal=Cancer Genetics and Cytogenetics|volume=134|issue=1|pages=71–76|doi=10.1016/s0165-4608(01)00611-2|issn=0165-4608|pmid=11996800}}</ref>PMID:11996800 <ref>{{Cite journal|last=Dahiya|first=Sonika|last2=Haydon|first2=Devon H.|last3=Alvarado|first3=David|last4=Gurnett|first4=Christina A.|last5=Gutmann|first5=David H.|last6=Leonard|first6=Jeffrey R.|date=2013-06|title=BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/23609006|journal=Acta Neuropathologica|volume=125|issue=6|pages=901–910|doi=10.1007/s00401-013-1120-y|issn=1432-0533|pmid=23609006}}</ref>PMID:23609006; <ref name=":7">{{Cite journal|last=Pekmezci|first=Melike|last2=Villanueva-Meyer|first2=Javier E.|last3=Goode|first3=Benjamin|last4=Van Ziffle|first4=Jessica|last5=Onodera|first5=Courtney|last6=Grenert|first6=James P.|last7=Bastian|first7=Boris C.|last8=Chamyan|first8=Gabriel|last9=Maher|first9=Ossama M.|date=2018-06-07|title=The genetic landscape of ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/29880043|journal=Acta Neuropathologica Communications|volume=6|issue=1|pages=47|doi=10.1186/s40478-018-0551-z|issn=2051-5960|pmc=5992851|pmid=29880043}}</ref>PMID:29880043
Line 48: Line 48:
 
|Diffuse astrocytoma
 
|Diffuse astrocytoma
 
|No diagnostic aberrations
 
|No diagnostic aberrations
|'''Rearrangement:''' MYBL1 truncating rearrangements and tandem duplication, FGFR1 rearrangements<br>
+
|'''Rearrangement:''' [[MYBL1]] truncating rearrangements and tandem duplication, [[FGFR1]] rearrangements<br>
'''Mutation:''' FGFR1  
+
'''Mutation:''' [[FGFR1]]
 
|Anaplastic features associated with decreased progression free survival
 
|Anaplastic features associated with decreased progression free survival
 
|<ref name=":1" />PMID:25664944; <ref name=":6" />PMID:23633565; <ref name=":8">{{Cite journal|last=Cancer Genome Atlas Research Network|last2=Brat|first2=Daniel J.|last3=Verhaak|first3=Roel G. W.|last4=Aldape|first4=Kenneth D.|last5=Yung|first5=W. K. Alfred|last6=Salama|first6=Sofie R.|last7=Cooper|first7=Lee A. D.|last8=Rheinbay|first8=Esther|last9=Miller|first9=C. Ryan|date=2015-06-25|title=Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26061751|journal=The New England Journal of Medicine|volume=372|issue=26|pages=2481–2498|doi=10.1056/NEJMoa1402121|issn=1533-4406|pmc=4530011|pmid=26061751}}</ref>PMID:26061751 <ref name=":9">{{Cite journal|last=Ceccarelli|first=Michele|last2=Barthel|first2=Floris P.|last3=Malta|first3=Tathiane M.|last4=Sabedot|first4=Thais S.|last5=Salama|first5=Sofie R.|last6=Murray|first6=Bradley A.|last7=Morozova|first7=Olena|last8=Newton|first8=Yulia|last9=Radenbaugh|first9=Amie|date=2016-01-28|title=Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma|url=https://pubmed.ncbi.nlm.nih.gov/26824661|journal=Cell|volume=164|issue=3|pages=550–563|doi=10.1016/j.cell.2015.12.028|issn=1097-4172|pmc=4754110|pmid=26824661}}</ref>PMID:26824661; <ref name=":10">{{Cite journal|last=Appin|first=Christina L.|last2=Brat|first2=Daniel J.|date=2015-11|title=Biomarker-driven diagnosis of diffuse gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26004297|journal=Molecular Aspects of Medicine|volume=45|pages=87–96|doi=10.1016/j.mam.2015.05.002|issn=1872-9452|pmid=26004297}}</ref>PMID:26004297; <ref name=":0" />PMID:25461780  <ref name=":3" />PMID:23583981
 
|<ref name=":1" />PMID:25664944; <ref name=":6" />PMID:23633565; <ref name=":8">{{Cite journal|last=Cancer Genome Atlas Research Network|last2=Brat|first2=Daniel J.|last3=Verhaak|first3=Roel G. W.|last4=Aldape|first4=Kenneth D.|last5=Yung|first5=W. K. Alfred|last6=Salama|first6=Sofie R.|last7=Cooper|first7=Lee A. D.|last8=Rheinbay|first8=Esther|last9=Miller|first9=C. Ryan|date=2015-06-25|title=Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26061751|journal=The New England Journal of Medicine|volume=372|issue=26|pages=2481–2498|doi=10.1056/NEJMoa1402121|issn=1533-4406|pmc=4530011|pmid=26061751}}</ref>PMID:26061751 <ref name=":9">{{Cite journal|last=Ceccarelli|first=Michele|last2=Barthel|first2=Floris P.|last3=Malta|first3=Tathiane M.|last4=Sabedot|first4=Thais S.|last5=Salama|first5=Sofie R.|last6=Murray|first6=Bradley A.|last7=Morozova|first7=Olena|last8=Newton|first8=Yulia|last9=Radenbaugh|first9=Amie|date=2016-01-28|title=Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma|url=https://pubmed.ncbi.nlm.nih.gov/26824661|journal=Cell|volume=164|issue=3|pages=550–563|doi=10.1016/j.cell.2015.12.028|issn=1097-4172|pmc=4754110|pmid=26824661}}</ref>PMID:26824661; <ref name=":10">{{Cite journal|last=Appin|first=Christina L.|last2=Brat|first2=Daniel J.|date=2015-11|title=Biomarker-driven diagnosis of diffuse gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26004297|journal=Molecular Aspects of Medicine|volume=45|pages=87–96|doi=10.1016/j.mam.2015.05.002|issn=1872-9452|pmid=26004297}}</ref>PMID:26004297; <ref name=":0" />PMID:25461780  <ref name=":3" />PMID:23583981
Line 57: Line 57:
 
|Polysomy 3, polysomy 7 observed<br>
 
|Polysomy 3, polysomy 7 observed<br>
 
'''Loss:''' monosomy 9 / 9p deletion
 
'''Loss:''' monosomy 9 / 9p deletion
|'''Mutations:''' BRAF V600E in ~60%; TP53 (5%)<br>
+
|'''Mutations:''' [[BRAF]] V600E in ~60%; [[TP53]] (5%)<br>
'''Loss:''' CDKN2A/CDKN2B  
+
'''Loss:''' [[CDKN2A]]/[[CDKN2B]]
 
|
 
|
 
|<ref name=":0" />PMID:25461780; <ref name=":3" />PMID:23583981; <ref>{{Cite journal|last=Weber|first=R. G.|last2=Hoischen|first2=A.|last3=Ehrler|first3=M.|last4=Zipper|first4=P.|last5=Kaulich|first5=K.|last6=Blaschke|first6=B.|last7=Becker|first7=A. J.|last8=Weber-Mangal|first8=S.|last9=Jauch|first9=A.|date=2007-02-15|title=Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas|url=https://pubmed.ncbi.nlm.nih.gov/16909113|journal=Oncogene|volume=26|issue=7|pages=1088–1097|doi=10.1038/sj.onc.1209851|issn=0950-9232|pmid=16909113}}</ref>PMID:16909113; <ref>{{Cite journal|last=Kaulich|first=Kerstin|last2=Blaschke|first2=Britta|last3=Nümann|first3=Astrid|last4=von Deimling|first4=Andreas|last5=Wiestler|first5=Otmar D.|last6=Weber|first6=Ruthild G.|last7=Reifenberger|first7=Guido|date=2002-12|title=Genetic alterations commonly found in diffusely infiltrating cerebral gliomas are rare or absent in pleomorphic xanthoastrocytomas|url=https://pubmed.ncbi.nlm.nih.gov/12484572|journal=Journal of Neuropathology and Experimental Neurology|volume=61|issue=12|pages=1092–1099|doi=10.1093/jnen/61.12.1092|issn=0022-3069|pmid=12484572}}</ref>PMID:12484572
 
|<ref name=":0" />PMID:25461780; <ref name=":3" />PMID:23583981; <ref>{{Cite journal|last=Weber|first=R. G.|last2=Hoischen|first2=A.|last3=Ehrler|first3=M.|last4=Zipper|first4=P.|last5=Kaulich|first5=K.|last6=Blaschke|first6=B.|last7=Becker|first7=A. J.|last8=Weber-Mangal|first8=S.|last9=Jauch|first9=A.|date=2007-02-15|title=Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas|url=https://pubmed.ncbi.nlm.nih.gov/16909113|journal=Oncogene|volume=26|issue=7|pages=1088–1097|doi=10.1038/sj.onc.1209851|issn=0950-9232|pmid=16909113}}</ref>PMID:16909113; <ref>{{Cite journal|last=Kaulich|first=Kerstin|last2=Blaschke|first2=Britta|last3=Nümann|first3=Astrid|last4=von Deimling|first4=Andreas|last5=Wiestler|first5=Otmar D.|last6=Weber|first6=Ruthild G.|last7=Reifenberger|first7=Guido|date=2002-12|title=Genetic alterations commonly found in diffusely infiltrating cerebral gliomas are rare or absent in pleomorphic xanthoastrocytomas|url=https://pubmed.ncbi.nlm.nih.gov/12484572|journal=Journal of Neuropathology and Experimental Neurology|volume=61|issue=12|pages=1092–1099|doi=10.1093/jnen/61.12.1092|issn=0022-3069|pmid=12484572}}</ref>PMID:12484572
Line 73: Line 73:
 
|Anaplastic PXA, WHO grade III / Ganglioglioma, WHO Grade III
 
|Anaplastic PXA, WHO grade III / Ganglioglioma, WHO Grade III
 
|'''Loss:''' monosomy 9 / 9p deletion, but no diagnostic findings
 
|'''Loss:''' monosomy 9 / 9p deletion, but no diagnostic findings
|'''Mutation:'''  BRAF V600E less common here than in PXA, grade II<br>
+
|'''Mutation:'''  [[BRAF]] V600E less common here than in PXA, grade II<br>
'''Loss:''' CDKN2A/CDKN2B
+
'''Loss:''' [[CDKN2A]]/[[CDKN2B]]
 
|CDKN2A/CDKN2B loss may correlate with anaplastic histology
 
|CDKN2A/CDKN2B loss may correlate with anaplastic histology
 
|WHO CNS Tumors (2016)<br>
 
|WHO CNS Tumors (2016)<br>
Line 84: Line 84:
 
'''Loss:''' 6q, 8q, 9p, 9q, 10q, 13q, 17p, 22q<br>
 
'''Loss:''' 6q, 8q, 9p, 9q, 10q, 13q, 17p, 22q<br>
 
''' Chromothripsis:''' observed
 
''' Chromothripsis:''' observed
|'''Loss:''' PTEN, RB1, TP53, CDKN2A/B/C
+
|'''Loss:''' [[PTEN]], [[RB1]], [[TP53]], [[CDKN2A]]/[[CDKN2B]]/[[CDKN2C]]
'''Fusions:''' FGFR-TACC; NTRK fusions <br>
+
'''Fusions:''' FGFR-[[TACC]]; NTRK fusions <br>
'''Amplification:''' PDGFRA, MYCN, MET, CDK4, CDK6 (EGFR, MDM2 amp rare)<br>
+
'''Amplification:''' [[PDGFRA]], [[MYCN]], [[MET]], [[CDK4]], [[CDK6]] ([[EGFR]], [[MDM2]] amp rare)<br>
'''Mutations:''' IDH1/2 (rare in pediatric GBM), KRAS, RAS pathway, RB1 pathway, TP53 pathway, FGFR1, H3.3/H3.1-K27M (exclusively in diffuse midline tumors), PDGFRA, NF1, SETD2, ATRX, DAXX  
+
'''Mutations:''' [[IDH1]]/[[IDH2]] (rare in pediatric GBM), [[KRAS]], RAS pathway, [[RB1]] pathway, [[TP53]] pathway, [[FGFR1]], H3.3/H3.1-K27M (exclusively in diffuse midline tumors), [[PDGFRA]], [[NF1]], [[SETD2]], [[ATRX]], [[DAXX]]
 
|Overall poor prognosis
 
|Overall poor prognosis
 
|<ref>{{Cite journal|last=Korshunov|first=Andrey|last2=Ryzhova|first2=Marina|last3=Hovestadt|first3=Volker|last4=Bender|first4=Sebastian|last5=Sturm|first5=Dominik|last6=Capper|first6=David|last7=Meyer|first7=Jochen|last8=Schrimpf|first8=Daniel|last9=Kool|first9=Marcel|date=2015-05|title=Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers|url=https://pubmed.ncbi.nlm.nih.gov/25752754|journal=Acta Neuropathologica|volume=129|issue=5|pages=669–678|doi=10.1007/s00401-015-1405-4|issn=1432-0533|pmid=25752754}}</ref>PMID:25752754; <ref name=":14">{{Cite journal|last=Karsy|first=Michael|last2=Neil|first2=Jayson A.|last3=Guan|first3=Jian|last4=Mahan|first4=Mark A.|last5=Mark|first5=Mahan A.|last6=Colman|first6=Howard|last7=Jensen|first7=Randy L.|date=2015-03|title=A practical review of prognostic correlations of molecular biomarkers in glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/25727226|journal=Neurosurgical Focus|volume=38|issue=3|pages=E4|doi=10.3171/2015.1.FOCUS14755|issn=1092-0684|pmid=25727226}}</ref>PMID:25727226; <ref>{{Cite journal|last=Furgason|first=John M.|last2=Koncar|first2=Robert F.|last3=Michelhaugh|first3=Sharon K.|last4=Sarkar|first4=Fazlul H.|last5=Mittal|first5=Sandeep|last6=Sloan|first6=Andrew E.|last7=Barnholtz-Sloan|first7=Jill S.|last8=Bahassi|first8=El Mustapha|date=2015|title=Whole genome sequence analysis links chromothripsis to EGFR, MDM2, MDM4, and CDK4 amplification in glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/26328271|journal=Oncoscience|volume=2|issue=7|pages=618–628|doi=10.18632/oncoscience.178|issn=2331-4737|pmc=4549359|pmid=26328271}}</ref>PMID:26328271; <ref>{{Cite journal|last=Singh|first=Devendra|last2=Chan|first2=Joseph Minhow|last3=Zoppoli|first3=Pietro|last4=Niola|first4=Francesco|last5=Sullivan|first5=Ryan|last6=Castano|first6=Angelica|last7=Liu|first7=Eric Minwei|last8=Reichel|first8=Jonathan|last9=Porrati|first9=Paola|date=2012-09-07|title=Transforming fusions of FGFR and TACC genes in human glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/22837387|journal=Science (New York, N.Y.)|volume=337|issue=6099|pages=1231–1235|doi=10.1126/science.1220834|issn=1095-9203|pmc=3677224|pmid=22837387}}</ref>PMID:22837387;  <ref name=":15">{{Cite journal|last=Ramkissoon|first=Shakti H.|last2=Bi|first2=Wenya Linda|last3=Schumacher|first3=Steven E.|last4=Ramkissoon|first4=Lori A.|last5=Haidar|first5=Sam|last6=Knoff|first6=David|last7=Dubuc|first7=Adrian|last8=Brown|first8=Loreal|last9=Burns|first9=Margot|date=2015-10|title=Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/25754088|journal=Neuro-Oncology|volume=17|issue=10|pages=1344–1355|doi=10.1093/neuonc/nov015|issn=1523-5866|pmc=4578577|pmid=25754088}}</ref>PMID:25754088; <ref name=":0" />PMID:25461780; <ref name=":11" />PMCID:1891902; <ref>{{Cite journal|last=Fontebasso|first=Adam M.|last2=Schwartzentruber|first2=Jeremy|last3=Khuong-Quang|first3=Dong-Anh|last4=Liu|first4=Xiao-Yang|last5=Sturm|first5=Dominik|last6=Korshunov|first6=Andrey|last7=Jones|first7=David T. W.|last8=Witt|first8=Hendrik|last9=Kool|first9=Marcel|date=2013-05|title=Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas|url=https://pubmed.ncbi.nlm.nih.gov/23417712|journal=Acta Neuropathologica|volume=125|issue=5|pages=659–669|doi=10.1007/s00401-013-1095-8|issn=1432-0533|pmc=3631313|pmid=23417712}}</ref>PMID:23417712; <ref name=":12" />PMCID:5323185; <ref name=":13" />PMID:29687258; <ref>{{Cite journal|last=Paugh|first=Barbara S.|last2=Qu|first2=Chunxu|last3=Jones|first3=Chris|last4=Liu|first4=Zhaoli|last5=Adamowicz-Brice|first5=Martyna|last6=Zhang|first6=Junyuan|last7=Bax|first7=Dorine A.|last8=Coyle|first8=Beth|last9=Barrow|first9=Jennifer|date=2010-06-20|title=Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease|url=https://pubmed.ncbi.nlm.nih.gov/20479398|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=28|issue=18|pages=3061–3068|doi=10.1200/JCO.2009.26.7252|issn=1527-7755|pmc=2903336|pmid=20479398}}</ref>PMID:20479398; <ref>{{Cite journal|last=Giunti|first=Laura|last2=Pantaleo|first2=Marilena|last3=Sardi|first3=Iacopo|last4=Provenzano|first4=Aldesia|last5=Magi|first5=Alberto|last6=Cardellicchio|first6=Stefania|last7=Castiglione|first7=Francesca|last8=Tattini|first8=Lorenzo|last9=Novara|first9=Francesca|date=2014|title=Genome-wide copy number analysis in pediatric glioblastoma multiforme|url=https://pubmed.ncbi.nlm.nih.gov/24959384|journal=American Journal of Cancer Research|volume=4|issue=3|pages=293–303|issn=2156-6976|pmc=4065410|pmid=24959384}}</ref>PMID:24959384
 
|<ref>{{Cite journal|last=Korshunov|first=Andrey|last2=Ryzhova|first2=Marina|last3=Hovestadt|first3=Volker|last4=Bender|first4=Sebastian|last5=Sturm|first5=Dominik|last6=Capper|first6=David|last7=Meyer|first7=Jochen|last8=Schrimpf|first8=Daniel|last9=Kool|first9=Marcel|date=2015-05|title=Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers|url=https://pubmed.ncbi.nlm.nih.gov/25752754|journal=Acta Neuropathologica|volume=129|issue=5|pages=669–678|doi=10.1007/s00401-015-1405-4|issn=1432-0533|pmid=25752754}}</ref>PMID:25752754; <ref name=":14">{{Cite journal|last=Karsy|first=Michael|last2=Neil|first2=Jayson A.|last3=Guan|first3=Jian|last4=Mahan|first4=Mark A.|last5=Mark|first5=Mahan A.|last6=Colman|first6=Howard|last7=Jensen|first7=Randy L.|date=2015-03|title=A practical review of prognostic correlations of molecular biomarkers in glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/25727226|journal=Neurosurgical Focus|volume=38|issue=3|pages=E4|doi=10.3171/2015.1.FOCUS14755|issn=1092-0684|pmid=25727226}}</ref>PMID:25727226; <ref>{{Cite journal|last=Furgason|first=John M.|last2=Koncar|first2=Robert F.|last3=Michelhaugh|first3=Sharon K.|last4=Sarkar|first4=Fazlul H.|last5=Mittal|first5=Sandeep|last6=Sloan|first6=Andrew E.|last7=Barnholtz-Sloan|first7=Jill S.|last8=Bahassi|first8=El Mustapha|date=2015|title=Whole genome sequence analysis links chromothripsis to EGFR, MDM2, MDM4, and CDK4 amplification in glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/26328271|journal=Oncoscience|volume=2|issue=7|pages=618–628|doi=10.18632/oncoscience.178|issn=2331-4737|pmc=4549359|pmid=26328271}}</ref>PMID:26328271; <ref>{{Cite journal|last=Singh|first=Devendra|last2=Chan|first2=Joseph Minhow|last3=Zoppoli|first3=Pietro|last4=Niola|first4=Francesco|last5=Sullivan|first5=Ryan|last6=Castano|first6=Angelica|last7=Liu|first7=Eric Minwei|last8=Reichel|first8=Jonathan|last9=Porrati|first9=Paola|date=2012-09-07|title=Transforming fusions of FGFR and TACC genes in human glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/22837387|journal=Science (New York, N.Y.)|volume=337|issue=6099|pages=1231–1235|doi=10.1126/science.1220834|issn=1095-9203|pmc=3677224|pmid=22837387}}</ref>PMID:22837387;  <ref name=":15">{{Cite journal|last=Ramkissoon|first=Shakti H.|last2=Bi|first2=Wenya Linda|last3=Schumacher|first3=Steven E.|last4=Ramkissoon|first4=Lori A.|last5=Haidar|first5=Sam|last6=Knoff|first6=David|last7=Dubuc|first7=Adrian|last8=Brown|first8=Loreal|last9=Burns|first9=Margot|date=2015-10|title=Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/25754088|journal=Neuro-Oncology|volume=17|issue=10|pages=1344–1355|doi=10.1093/neuonc/nov015|issn=1523-5866|pmc=4578577|pmid=25754088}}</ref>PMID:25754088; <ref name=":0" />PMID:25461780; <ref name=":11" />PMCID:1891902; <ref>{{Cite journal|last=Fontebasso|first=Adam M.|last2=Schwartzentruber|first2=Jeremy|last3=Khuong-Quang|first3=Dong-Anh|last4=Liu|first4=Xiao-Yang|last5=Sturm|first5=Dominik|last6=Korshunov|first6=Andrey|last7=Jones|first7=David T. W.|last8=Witt|first8=Hendrik|last9=Kool|first9=Marcel|date=2013-05|title=Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas|url=https://pubmed.ncbi.nlm.nih.gov/23417712|journal=Acta Neuropathologica|volume=125|issue=5|pages=659–669|doi=10.1007/s00401-013-1095-8|issn=1432-0533|pmc=3631313|pmid=23417712}}</ref>PMID:23417712; <ref name=":12" />PMCID:5323185; <ref name=":13" />PMID:29687258; <ref>{{Cite journal|last=Paugh|first=Barbara S.|last2=Qu|first2=Chunxu|last3=Jones|first3=Chris|last4=Liu|first4=Zhaoli|last5=Adamowicz-Brice|first5=Martyna|last6=Zhang|first6=Junyuan|last7=Bax|first7=Dorine A.|last8=Coyle|first8=Beth|last9=Barrow|first9=Jennifer|date=2010-06-20|title=Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease|url=https://pubmed.ncbi.nlm.nih.gov/20479398|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=28|issue=18|pages=3061–3068|doi=10.1200/JCO.2009.26.7252|issn=1527-7755|pmc=2903336|pmid=20479398}}</ref>PMID:20479398; <ref>{{Cite journal|last=Giunti|first=Laura|last2=Pantaleo|first2=Marilena|last3=Sardi|first3=Iacopo|last4=Provenzano|first4=Aldesia|last5=Magi|first5=Alberto|last6=Cardellicchio|first6=Stefania|last7=Castiglione|first7=Francesca|last8=Tattini|first8=Lorenzo|last9=Novara|first9=Francesca|date=2014|title=Genome-wide copy number analysis in pediatric glioblastoma multiforme|url=https://pubmed.ncbi.nlm.nih.gov/24959384|journal=American Journal of Cancer Research|volume=4|issue=3|pages=293–303|issn=2156-6976|pmc=4065410|pmid=24959384}}</ref>PMID:24959384
Line 97: Line 97:
 
'''Chromothripsis:''' 2p
 
'''Chromothripsis:''' 2p
 
|'''Three molecular subgroups:''' <br>
 
|'''Three molecular subgroups:''' <br>
'''MYCN subgroup:''' no mutations but chromothripsis leading to amp of MYCN and ID2<br>
+
'''MYCN subgroup:''' no mutations but chromothripsis leading to amp of [[MYCN]] and [[ID2]]<br>
 
'''Silent subgroup:''' no recurrent copy # changes, few mutations<br>
 
'''Silent subgroup:''' no recurrent copy # changes, few mutations<br>
'''H3-K27M subgroup:''' MYC, PDGFRA gains/amp; RB1, TP53 deletions<br>
+
'''H3-K27M subgroup:''' [[MYC]], [[PDGFRA]] gains/amp; [[RB1]], [[TP53]] deletions<br>
'''Mutation:''' ACVR1, H3F3A, HIST1H3B, TP53 '''Loss:''' CDKN2A, PTEN, RB1, TP53<br>
+
'''Mutation:''' [[ACVR1]], [[H3F3A]], [[HIST1H3B]], [[TP53]] '''Loss:''' [[CDKN2A]], [[PTEN]], [[RB1]], [[TP53]]<br>
'''Amplification:''' MYC, MYCN, ID2, PDGFRA  
+
'''Amplification:''' [[MYC]], [[MYCN]], [[ID2]], [[PDGFRA]]
 
|Overall poor prognosis regardless of subgroup
 
|Overall poor prognosis regardless of subgroup
 
|<ref>{{Cite journal|last=Warren|first=Katherine E.|last2=Killian|first2=Keith|last3=Suuriniemi|first3=Miia|last4=Wang|first4=Yonghong|last5=Quezado|first5=Martha|last6=Meltzer|first6=Paul S.|date=2012-3|title=Genomic aberrations in pediatric diffuse intrinsic pontine gliomas|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3280796/|journal=Neuro-Oncology|volume=14|issue=3|pages=326–332|doi=10.1093/neuonc/nor190|issn=1522-8517|pmc=3280796|pmid=22064882}}</ref>PMCID:3280796; <ref>{{Cite journal|last=Buczkowicz|first=Pawel|last2=Hoeman|first2=Christine|last3=Rakopoulos|first3=Patricia|last4=Pajovic|first4=Sanja|last5=Letourneau|first5=Louis|last6=Dzamba|first6=Misko|last7=Morrison|first7=Andrew|last8=Lewis|first8=Peter|last9=Bouffet|first9=Eric|date=2014-05|title=Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations|url=https://pubmed.ncbi.nlm.nih.gov/24705254|journal=Nature Genetics|volume=46|issue=5|pages=451–456|doi=10.1038/ng.2936|issn=1546-1718|pmc=3997489|pmid=24705254}}</ref>PMID:24705254; <ref>{{Cite journal|last=Taylor|first=Kathryn R.|last2=Mackay|first2=Alan|last3=Truffaux|first3=Nathalène|last4=Butterfield|first4=Yaron|last5=Morozova|first5=Olena|last6=Philippe|first6=Cathy|last7=Castel|first7=David|last8=Grasso|first8=Catherine S.|last9=Vinci|first9=Maria|date=2014-05|title=Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma|url=https://pubmed.ncbi.nlm.nih.gov/24705252|journal=Nature Genetics|volume=46|issue=5|pages=457–461|doi=10.1038/ng.2925|issn=1546-1718|pmc=4018681|pmid=24705252}}</ref>PMID:24705252 <ref>{{Cite journal|last=Nikbakht|first=Hamid|last2=Panditharatna|first2=Eshini|last3=Mikael|first3=Leonie G.|last4=Li|first4=Rui|last5=Gayden|first5=Tenzin|last6=Osmond|first6=Matthew|last7=Ho|first7=Cheng-Ying|last8=Kambhampati|first8=Madhuri|last9=Hwang|first9=Eugene I.|date=2016-04-06|title=Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma|url=https://pubmed.ncbi.nlm.nih.gov/27048880|journal=Nature Communications|volume=7|pages=11185|doi=10.1038/ncomms11185|issn=2041-1723|pmc=4823825|pmid=27048880}}</ref>PMID:27048880; <ref>{{Cite journal|last=Buczkowicz|first=Pawel|last2=Hawkins|first2=Cynthia|date=2015|title=Pathology, Molecular Genetics, and Epigenetics of Diffuse Intrinsic Pontine Glioma|url=https://pubmed.ncbi.nlm.nih.gov/26175967|journal=Frontiers in Oncology|volume=5|pages=147|doi=10.3389/fonc.2015.00147|issn=2234-943X|pmc=4485076|pmid=26175967}}</ref>PMID:26175967; <ref>{{Cite journal|last=Wu|first=Gang|last2=Diaz|first2=Alexander K.|last3=Paugh|first3=Barbara S.|last4=Rankin|first4=Sherri L.|last5=Ju|first5=Bensheng|last6=Li|first6=Yongjin|last7=Zhu|first7=Xiaoyan|last8=Qu|first8=Chunxu|last9=Chen|first9=Xiang|date=2014-05|title=The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma|url=https://pubmed.ncbi.nlm.nih.gov/24705251|journal=Nature Genetics|volume=46|issue=5|pages=444–450|doi=10.1038/ng.2938|issn=1546-1718|pmc=4056452|pmid=24705251}}</ref>PMID:24705251; <ref>{{Cite journal|last=Mackay|first=Alan|last2=Burford|first2=Anna|last3=Carvalho|first3=Diana|last4=Izquierdo|first4=Elisa|last5=Fazal-Salom|first5=Janat|last6=Taylor|first6=Kathryn R.|last7=Bjerke|first7=Lynn|last8=Clarke|first8=Matthew|last9=Vinci|first9=Mara|date=2017-10-09|title=Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma|url=https://pubmed.ncbi.nlm.nih.gov/28966033|journal=Cancer Cell|volume=32|issue=4|pages=520–537.e5|doi=10.1016/j.ccell.2017.08.017|issn=1878-3686|pmc=5637314|pmid=28966033}}</ref>PMID:28966033
 
|<ref>{{Cite journal|last=Warren|first=Katherine E.|last2=Killian|first2=Keith|last3=Suuriniemi|first3=Miia|last4=Wang|first4=Yonghong|last5=Quezado|first5=Martha|last6=Meltzer|first6=Paul S.|date=2012-3|title=Genomic aberrations in pediatric diffuse intrinsic pontine gliomas|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3280796/|journal=Neuro-Oncology|volume=14|issue=3|pages=326–332|doi=10.1093/neuonc/nor190|issn=1522-8517|pmc=3280796|pmid=22064882}}</ref>PMCID:3280796; <ref>{{Cite journal|last=Buczkowicz|first=Pawel|last2=Hoeman|first2=Christine|last3=Rakopoulos|first3=Patricia|last4=Pajovic|first4=Sanja|last5=Letourneau|first5=Louis|last6=Dzamba|first6=Misko|last7=Morrison|first7=Andrew|last8=Lewis|first8=Peter|last9=Bouffet|first9=Eric|date=2014-05|title=Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations|url=https://pubmed.ncbi.nlm.nih.gov/24705254|journal=Nature Genetics|volume=46|issue=5|pages=451–456|doi=10.1038/ng.2936|issn=1546-1718|pmc=3997489|pmid=24705254}}</ref>PMID:24705254; <ref>{{Cite journal|last=Taylor|first=Kathryn R.|last2=Mackay|first2=Alan|last3=Truffaux|first3=Nathalène|last4=Butterfield|first4=Yaron|last5=Morozova|first5=Olena|last6=Philippe|first6=Cathy|last7=Castel|first7=David|last8=Grasso|first8=Catherine S.|last9=Vinci|first9=Maria|date=2014-05|title=Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma|url=https://pubmed.ncbi.nlm.nih.gov/24705252|journal=Nature Genetics|volume=46|issue=5|pages=457–461|doi=10.1038/ng.2925|issn=1546-1718|pmc=4018681|pmid=24705252}}</ref>PMID:24705252 <ref>{{Cite journal|last=Nikbakht|first=Hamid|last2=Panditharatna|first2=Eshini|last3=Mikael|first3=Leonie G.|last4=Li|first4=Rui|last5=Gayden|first5=Tenzin|last6=Osmond|first6=Matthew|last7=Ho|first7=Cheng-Ying|last8=Kambhampati|first8=Madhuri|last9=Hwang|first9=Eugene I.|date=2016-04-06|title=Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma|url=https://pubmed.ncbi.nlm.nih.gov/27048880|journal=Nature Communications|volume=7|pages=11185|doi=10.1038/ncomms11185|issn=2041-1723|pmc=4823825|pmid=27048880}}</ref>PMID:27048880; <ref>{{Cite journal|last=Buczkowicz|first=Pawel|last2=Hawkins|first2=Cynthia|date=2015|title=Pathology, Molecular Genetics, and Epigenetics of Diffuse Intrinsic Pontine Glioma|url=https://pubmed.ncbi.nlm.nih.gov/26175967|journal=Frontiers in Oncology|volume=5|pages=147|doi=10.3389/fonc.2015.00147|issn=2234-943X|pmc=4485076|pmid=26175967}}</ref>PMID:26175967; <ref>{{Cite journal|last=Wu|first=Gang|last2=Diaz|first2=Alexander K.|last3=Paugh|first3=Barbara S.|last4=Rankin|first4=Sherri L.|last5=Ju|first5=Bensheng|last6=Li|first6=Yongjin|last7=Zhu|first7=Xiaoyan|last8=Qu|first8=Chunxu|last9=Chen|first9=Xiang|date=2014-05|title=The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma|url=https://pubmed.ncbi.nlm.nih.gov/24705251|journal=Nature Genetics|volume=46|issue=5|pages=444–450|doi=10.1038/ng.2938|issn=1546-1718|pmc=4056452|pmid=24705251}}</ref>PMID:24705251; <ref>{{Cite journal|last=Mackay|first=Alan|last2=Burford|first2=Anna|last3=Carvalho|first3=Diana|last4=Izquierdo|first4=Elisa|last5=Fazal-Salom|first5=Janat|last6=Taylor|first6=Kathryn R.|last7=Bjerke|first7=Lynn|last8=Clarke|first8=Matthew|last9=Vinci|first9=Mara|date=2017-10-09|title=Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma|url=https://pubmed.ncbi.nlm.nih.gov/28966033|journal=Cancer Cell|volume=32|issue=4|pages=520–537.e5|doi=10.1016/j.ccell.2017.08.017|issn=1878-3686|pmc=5637314|pmid=28966033}}</ref>PMID:28966033
Line 109: Line 109:
 
|
 
|
 
|'''DNA-based methylation classifies''' tumors across anatomical sites (posterior fossa, supratentorial, spinal), grades and age groups
 
|'''DNA-based methylation classifies''' tumors across anatomical sites (posterior fossa, supratentorial, spinal), grades and age groups
|'''Fusion:''' YAP1 fusions (supratentorial tumors)<br>
+
|'''Fusion:''' [[YAP1]] fusions (supratentorial tumors)<br>
'''Mutation:''' NF2 (spinal tumors)<br>
+
'''Mutation:''' [[NF2]] (spinal tumors)<br>
'''Loss:''' CDKN2A  
+
'''Loss:''' [[CDKN2A]]
 
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is of questionable relevance; Prognostic differences among tumors suggested on the basis of methylation analysis
 
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is of questionable relevance; Prognostic differences among tumors suggested on the basis of methylation analysis
 
|WHO CNS Tumors (2016)<br>
 
|WHO CNS Tumors (2016)<br>
Line 135: Line 135:
 
|Myxopapillary ependymoma, WHO grade I
 
|Myxopapillary ependymoma, WHO grade I
 
|'''Aneuploidy:''' multiple chromosomes lost and gained
 
|'''Aneuploidy:''' multiple chromosomes lost and gained
|'''Mutation:''' NF2 (including germline) in spinal tumors
+
|'''Mutation:''' [[NF2]] (including germline) in spinal tumors
 
|Less common but more aggressive in children
 
|Less common but more aggressive in children
 
|<ref name=":16" />PMID:25965575; <ref name=":24">{{Cite journal|last=Zadnik|first=Patricia L.|last2=Gokaslan|first2=Ziya L.|last3=Burger|first3=Peter C.|last4=Bettegowda|first4=Chetan|date=2013-5|title=Spinal cord tumours: advances in genetics and their implications for treatment|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991130/|journal=Nature reviews. Neurology|volume=9|issue=5|pages=257–266|doi=10.1038/nrneurol.2013.48|issn=1759-4758|pmc=3991130|pmid=23528542}}</ref>PMCID:3991130; <ref name=":25">{{Cite journal|last=Dubuc|first=Adrian M.|last2=Northcott|first2=Paul A.|last3=Mack|first3=Stephen|last4=Witt|first4=Hendrik|last5=Pfister|first5=Stefan|last6=Taylor|first6=Michael D.|date=2010-05|title=The genetics of pediatric brain tumors|url=https://pubmed.ncbi.nlm.nih.gov/20425037|journal=Current Neurology and Neuroscience Reports|volume=10|issue=3|pages=215–223|doi=10.1007/s11910-010-0103-9|issn=1534-6293|pmid=20425037}}</ref>PMID:20425037; <ref name=":26">{{Cite journal|last=Mack|first=Stephen C.|last2=Agnihotri|first2=Sameer|last3=Bertrand|first3=Kelsey C.|last4=Wang|first4=Xin|last5=Shih|first5=David J.|last6=Witt|first6=Hendrik|last7=Hill|first7=Nadia|last8=Zayne|first8=Kory|last9=Barszczyk|first9=Mark|date=2015-08-15|title=Spinal Myxopapillary Ependymomas Demonstrate a Warburg Phenotype|url=https://pubmed.ncbi.nlm.nih.gov/25957288|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=21|issue=16|pages=3750–3758|doi=10.1158/1078-0432.CCR-14-2650|issn=1557-3265|pmc=4537825|pmid=25957288}}</ref>PMID:25957288; <ref name=":19" />PMID:22516549
 
|<ref name=":16" />PMID:25965575; <ref name=":24">{{Cite journal|last=Zadnik|first=Patricia L.|last2=Gokaslan|first2=Ziya L.|last3=Burger|first3=Peter C.|last4=Bettegowda|first4=Chetan|date=2013-5|title=Spinal cord tumours: advances in genetics and their implications for treatment|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991130/|journal=Nature reviews. Neurology|volume=9|issue=5|pages=257–266|doi=10.1038/nrneurol.2013.48|issn=1759-4758|pmc=3991130|pmid=23528542}}</ref>PMCID:3991130; <ref name=":25">{{Cite journal|last=Dubuc|first=Adrian M.|last2=Northcott|first2=Paul A.|last3=Mack|first3=Stephen|last4=Witt|first4=Hendrik|last5=Pfister|first5=Stefan|last6=Taylor|first6=Michael D.|date=2010-05|title=The genetics of pediatric brain tumors|url=https://pubmed.ncbi.nlm.nih.gov/20425037|journal=Current Neurology and Neuroscience Reports|volume=10|issue=3|pages=215–223|doi=10.1007/s11910-010-0103-9|issn=1534-6293|pmid=20425037}}</ref>PMID:20425037; <ref name=":26">{{Cite journal|last=Mack|first=Stephen C.|last2=Agnihotri|first2=Sameer|last3=Bertrand|first3=Kelsey C.|last4=Wang|first4=Xin|last5=Shih|first5=David J.|last6=Witt|first6=Hendrik|last7=Hill|first7=Nadia|last8=Zayne|first8=Kory|last9=Barszczyk|first9=Mark|date=2015-08-15|title=Spinal Myxopapillary Ependymomas Demonstrate a Warburg Phenotype|url=https://pubmed.ncbi.nlm.nih.gov/25957288|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=21|issue=16|pages=3750–3758|doi=10.1158/1078-0432.CCR-14-2650|issn=1557-3265|pmc=4537825|pmid=25957288}}</ref>PMID:25957288; <ref name=":19" />PMID:22516549
Line 144: Line 144:
 
'''Aneuploidy:''' multiple chromosomes lost and gained<br>
 
'''Aneuploidy:''' multiple chromosomes lost and gained<br>
 
'''Chromothripsis:''' chromosome 11 (70% of supratentorial tumors)
 
'''Chromothripsis:''' chromosome 11 (70% of supratentorial tumors)
|'''Fusion:''' c11orf95-RELA (supratentorial tumors)<br>
+
|'''Fusion:''' [[C11ORF95]]-[[RELA]] (supratentorial tumors)<br>
'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)  
+
'''Loss:''' [[CDKN2A]]/[[CDKN2B]] (may help distinguish from other supratentorial ependymomas)  
 
|Unfavorable prognosis; occur in infants or children
 
|Unfavorable prognosis; occur in infants or children
 
|<ref name=":16" />PMID:25965575; <ref name=":27">{{Cite journal|last=Parker|first=Matthew|last2=Mohankumar|first2=Kumarasamypet M.|last3=Punchihewa|first3=Chandanamali|last4=Weinlich|first4=Ricardo|last5=Dalton|first5=James D.|last6=Li|first6=Yongjin|last7=Lee|first7=Ryan|last8=Tatevossian|first8=Ruth G.|last9=Phoenix|first9=Timothy N.|date=2014-02-27|title=C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma|url=https://pubmed.ncbi.nlm.nih.gov/24553141|journal=Nature|volume=506|issue=7489|pages=451–455|doi=10.1038/nature13109|issn=1476-4687|pmc=4050669|pmid=24553141}}</ref>PMID:24553141; <ref name=":22" />PMID:28371821
 
|<ref name=":16" />PMID:25965575; <ref name=":27">{{Cite journal|last=Parker|first=Matthew|last2=Mohankumar|first2=Kumarasamypet M.|last3=Punchihewa|first3=Chandanamali|last4=Weinlich|first4=Ricardo|last5=Dalton|first5=James D.|last6=Li|first6=Yongjin|last7=Lee|first7=Ryan|last8=Tatevossian|first8=Ruth G.|last9=Phoenix|first9=Timothy N.|date=2014-02-27|title=C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma|url=https://pubmed.ncbi.nlm.nih.gov/24553141|journal=Nature|volume=506|issue=7489|pages=451–455|doi=10.1038/nature13109|issn=1476-4687|pmc=4050669|pmid=24553141}}</ref>PMID:24553141; <ref name=":22" />PMID:28371821
Line 152: Line 152:
 
|Anaplastic ependymoma (no WHO grade assigned)
 
|Anaplastic ependymoma (no WHO grade assigned)
 
|Epigenetic studies suggest range of abnormalities: balanced or unbalanced genomes
 
|Epigenetic studies suggest range of abnormalities: balanced or unbalanced genomes
|'''Mutation:''' NF2 (including germline) in spinal tumors<br>
+
|'''Mutation:''' [[NF2]] (including germline) in spinal tumors<br>
'''Fusion:''' RELA fusions, YAP1 fusions can correspond to anaplastic histology
+
'''Fusion:''' [[RELA]] fusions, [[YAP1]] fusions can correspond to anaplastic histology
 
|Mostly intracranial tumors, rarely in spinal cord; YAP1 fusion tumors can occur in infants
 
|Mostly intracranial tumors, rarely in spinal cord; YAP1 fusion tumors can occur in infants
 
|<ref name=":16" />PMID: 25965575
 
|<ref name=":16" />PMID: 25965575
Line 167: Line 167:
 
|WNT-activated
 
|WNT-activated
 
|'''Loss:''' monosomy 6/6q- as sole finding in 85%
 
|'''Loss:''' monosomy 6/6q- as sole finding in 85%
|'''Mutation:''' CTNNB1, DDX3X, TP53, SMARCA4, KMT2D, APC (germline mutations in Turcot syndrome)
+
|'''Mutation:''' [[CTNNB1]], [[DDX3X]], [[TP53]], [[SMARCA4]], [[KMT2D]], [[APC]] (germline mutations in Turcot syndrome)
 
|Common in children > 3 years of age; typically show classic histology, rarely metastasize; overall favorable prognosis
 
|Common in children > 3 years of age; typically show classic histology, rarely metastasize; overall favorable prognosis
 
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H.|last8=Hovestadt|first8=Volker|last9=Zapatka|first9=Marc|date=2014-07-24|title=Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma|url=https://pubmed.ncbi.nlm.nih.gov/25043047|journal=Nature|volume=511|issue=7510|pages=428–434|doi=10.1038/nature13379|issn=1476-4687|pmc=4201514|pmid=25043047}}</ref>PMID:25043047 <ref name=":33">{{Cite journal|last=Pugh|first=Trevor J.|last2=Weeraratne|first2=Shyamal Dilhan|last3=Archer|first3=Tenley C.|last4=Pomeranz Krummel|first4=Daniel A.|last5=Auclair|first5=Daniel|last6=Bochicchio|first6=James|last7=Carneiro|first7=Mauricio O.|last8=Carter|first8=Scott L.|last9=Cibulskis|first9=Kristian|date=2012-08-02|title=Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations|url=https://pubmed.ncbi.nlm.nih.gov/22820256|journal=Nature|volume=488|issue=7409|pages=106–110|doi=10.1038/nature11329|issn=1476-4687|pmc=3413789|pmid=22820256}}</ref>PMID:22820256; <ref name=":34">{{Cite journal|last=Thompson|first=Eric M.|last2=Hielscher|first2=Thomas|last3=Bouffet|first3=Eric|last4=Remke|first4=Marc|last5=Luu|first5=Betty|last6=Gururangan|first6=Sridharan|last7=McLendon|first7=Roger E.|last8=Bigner|first8=Darell D.|last9=Lipp|first9=Eric S.|date=2016-04|title=Prognostic value of medulloblastoma extent of resection after accounting for molecular subgroup: a retrospective integrated clinical and molecular analysis|url=https://pubmed.ncbi.nlm.nih.gov/26976201|journal=The Lancet. Oncology|volume=17|issue=4|pages=484–495|doi=10.1016/S1470-2045(15)00581-1|issn=1474-5488|pmc=4907853|pmid=26976201}}</ref>PMID:26976201; <ref>{{Cite journal|last=Northcott|first=Paul A.|last2=Korshunov|first2=Andrey|last3=Witt|first3=Hendrik|last4=Hielscher|first4=Thomas|last5=Eberhart|first5=Charles G.|last6=Mack|first6=Stephen|last7=Bouffet|first7=Eric|last8=Clifford|first8=Steven C.|last9=Hawkins|first9=Cynthia E.|date=2011-04-10|title=Medulloblastoma comprises four distinct molecular variants|url=https://pubmed.ncbi.nlm.nih.gov/20823417|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=29|issue=11|pages=1408–1414|doi=10.1200/JCO.2009.27.4324|issn=1527-7755|pmc=4874239|pmid=20823417}}</ref>PMID:20823417 <ref name=":35">{{Cite journal|last=Rausch|first=Tobias|last2=Jones|first2=David T. W.|last3=Zapatka|first3=Marc|last4=Stütz|first4=Adrian M.|last5=Zichner|first5=Thomas|last6=Weischenfeldt|first6=Joachim|last7=Jäger|first7=Natalie|last8=Remke|first8=Marc|last9=Shih|first9=David|date=2012-01-20|title=Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations|url=https://pubmed.ncbi.nlm.nih.gov/22265402|journal=Cell|volume=148|issue=1-2|pages=59–71|doi=10.1016/j.cell.2011.12.013|issn=1097-4172|pmc=3332216|pmid=22265402}}</ref>PMID:22265402; <ref name=":36">{{Cite journal|last=Northcott|first=Paul A|last2=Jones|first2=David TW|last3=Kool|first3=Marcel|last4=Robinson|first4=Giles W|last5=Gilbertson|first5=Richard J|last6=Cho|first6=Yoon-Jae|last7=Pomeroy|first7=Scott L|last8=Korshunov|first8=Andrey|last9=Lichter|first9=Peter|date=2012-12|title=Medulloblastomics: The End of the Beginning|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3889646/|journal=Nature reviews. Cancer|volume=12|issue=12|pages=818–834|doi=10.1038/nrc3410|issn=1474-175X|pmc=3889646|pmid=23175120}}</ref>PMCID:3889646; <ref name=":37">{{Cite journal|last=Thompson|first=Margaret C.|last2=Fuller|first2=Christine|last3=Hogg|first3=Twala L.|last4=Dalton|first4=James|last5=Finkelstein|first5=David|last6=Lau|first6=Ching C.|last7=Chintagumpala|first7=Murali|last8=Adesina|first8=Adekunle|last9=Ashley|first9=David M.|date=2006-04-20|title=Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations|url=https://pubmed.ncbi.nlm.nih.gov/16567768|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=24|issue=12|pages=1924–1931|doi=10.1200/JCO.2005.04.4974|issn=1527-7755|pmid=16567768}}</ref>PMID:16567768 <ref name=":38">{{Cite journal|last=Rutkowski|first=Stefan|last2=von Hoff|first2=Katja|last3=Emser|first3=Angela|last4=Zwiener|first4=Isabella|last5=Pietsch|first5=Torsten|last6=Figarella-Branger|first6=Dominique|last7=Giangaspero|first7=Felice|last8=Ellison|first8=David W.|last9=Garre|first9=Maria-Luisa|date=2010-11-20|title=Survival and prognostic factors of early childhood medulloblastoma: an international meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/20940197|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=28|issue=33|pages=4961–4968|doi=10.1200/JCO.2010.30.2299|issn=1527-7755|pmid=20940197}}</ref>PMID:20940197
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'''Chromothripsis:''' associated with TP53 mutation   
 
'''Chromothripsis:''' associated with TP53 mutation   
 
|'''Mutation:'''<br>
 
|'''Mutation:'''<br>
'''TP53 wild-type tumors:''' PTCH1 (germline mutations in Gorlin syndrome), SMO, SUFU (can be germline), TERT promoter<br>
+
'''TP53 wild-type tumors:''' [[PTCH1]] (germline mutations in Gorlin syndrome), [[SMO]], [[SUFU]] (can be germline), [[TERT]] promoter<br>
'''TP53-mutant tumors:''' can be germline<br>
+
'''[[TP53]]-mutant tumors:''' can be germline<br>
'''Loss:''' PTCH1, PTEN<br>
+
'''Loss:''' [[PTCH1]], [[PTEN]]<br>
'''Amplification:''' GLI2 (TP53-mutant tumors), IGF1R, PPM1D, MYCN (TP53-mutant tumors), YAP1, MIR17/92, MDM4
+
'''Amplification:''' [[GLI2]] ([[TP53]]-mutant tumors), [[IGF1R]], [[PPM1D]], [[MYCN]] ([[TP53]]-mutant tumors), [[YAP1]], MIR17/92, [[MDM4]]
 
|Common in infants, rare in children, most common type of medulloblastoma in adults; Desmoplastic (or nodular) histology common; TP53 wild-type usually correlate with extensive nodularity or desmoplastic histology; TP53-mutant tumors correlate with metastatic disease
 
|Common in infants, rare in children, most common type of medulloblastoma in adults; Desmoplastic (or nodular) histology common; TP53 wild-type usually correlate with extensive nodularity or desmoplastic histology; TP53-mutant tumors correlate with metastatic disease
 
|<ref>{{Cite journal|last=Kool|first=Marcel|last2=Jones|first2=David T. W.|last3=Jäger|first3=Natalie|last4=Northcott|first4=Paul A.|last5=Pugh|first5=Trevor J.|last6=Hovestadt|first6=Volker|last7=Piro|first7=Rosario M.|last8=Esparza|first8=L. Adriana|last9=Markant|first9=Shirley L.|date=2014-03-17|title=Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition|url=https://pubmed.ncbi.nlm.nih.gov/24651015|journal=Cancer Cell|volume=25|issue=3|pages=393–405|doi=10.1016/j.ccr.2014.02.004|issn=1878-3686|pmc=4493053|pmid=24651015}}</ref>PMID:24651015; <ref>{{Cite journal|last=Northcott|first=Paul A.|last2=Hielscher|first2=Thomas|last3=Dubuc|first3=Adrian|last4=Mack|first4=Stephen|last5=Shih|first5=David|last6=Remke|first6=Marc|last7=Al-Halabi|first7=Hani|last8=Albrecht|first8=Steffen|last9=Jabado|first9=Nada|date=2011-08|title=Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct|url=https://pubmed.ncbi.nlm.nih.gov/21681522|journal=Acta Neuropathologica|volume=122|issue=2|pages=231–240|doi=10.1007/s00401-011-0846-7|issn=1432-0533|pmc=4538327|pmid=21681522}}</ref>PMID:21681522; <ref name=":28" />PMID:22832581 <ref name=":29" />PMID:24493713; <ref>{{Cite journal|last=Gajjar|first=Amar|last2=Stewart|first2=Clinton F.|last3=Ellison|first3=David W.|last4=Kaste|first4=Sue|last5=Kun|first5=Larry E.|last6=Packer|first6=Roger J.|last7=Goldman|first7=Stewart|last8=Chintagumpala|first8=Murali|last9=Wallace|first9=Dana|date=2013-11-15|title=Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: a pediatric brain tumor consortium study|url=https://pubmed.ncbi.nlm.nih.gov/24077351|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=19|issue=22|pages=6305–6312|doi=10.1158/1078-0432.CCR-13-1425|issn=1557-3265|pmc=3856244|pmid=24077351}}</ref>PMID:24077351; <ref name=":30" />PMID:22134537; <ref name=":31" />PMID:22358457 <ref name=":32" />PMID:25043047; <ref name=":33" />PMID:22820256; <ref name=":34" />PMID:26976201 <ref name=":34" />PMID:20823417; <ref name=":35" />PMID:22265402; <ref name=":36" />PMCID:3889646 <ref name=":37" />PMID:16567768; <ref name=":38" />PMID:20940197
 
|<ref>{{Cite journal|last=Kool|first=Marcel|last2=Jones|first2=David T. W.|last3=Jäger|first3=Natalie|last4=Northcott|first4=Paul A.|last5=Pugh|first5=Trevor J.|last6=Hovestadt|first6=Volker|last7=Piro|first7=Rosario M.|last8=Esparza|first8=L. Adriana|last9=Markant|first9=Shirley L.|date=2014-03-17|title=Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition|url=https://pubmed.ncbi.nlm.nih.gov/24651015|journal=Cancer Cell|volume=25|issue=3|pages=393–405|doi=10.1016/j.ccr.2014.02.004|issn=1878-3686|pmc=4493053|pmid=24651015}}</ref>PMID:24651015; <ref>{{Cite journal|last=Northcott|first=Paul A.|last2=Hielscher|first2=Thomas|last3=Dubuc|first3=Adrian|last4=Mack|first4=Stephen|last5=Shih|first5=David|last6=Remke|first6=Marc|last7=Al-Halabi|first7=Hani|last8=Albrecht|first8=Steffen|last9=Jabado|first9=Nada|date=2011-08|title=Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct|url=https://pubmed.ncbi.nlm.nih.gov/21681522|journal=Acta Neuropathologica|volume=122|issue=2|pages=231–240|doi=10.1007/s00401-011-0846-7|issn=1432-0533|pmc=4538327|pmid=21681522}}</ref>PMID:21681522; <ref name=":28" />PMID:22832581 <ref name=":29" />PMID:24493713; <ref>{{Cite journal|last=Gajjar|first=Amar|last2=Stewart|first2=Clinton F.|last3=Ellison|first3=David W.|last4=Kaste|first4=Sue|last5=Kun|first5=Larry E.|last6=Packer|first6=Roger J.|last7=Goldman|first7=Stewart|last8=Chintagumpala|first8=Murali|last9=Wallace|first9=Dana|date=2013-11-15|title=Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: a pediatric brain tumor consortium study|url=https://pubmed.ncbi.nlm.nih.gov/24077351|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=19|issue=22|pages=6305–6312|doi=10.1158/1078-0432.CCR-13-1425|issn=1557-3265|pmc=3856244|pmid=24077351}}</ref>PMID:24077351; <ref name=":30" />PMID:22134537; <ref name=":31" />PMID:22358457 <ref name=":32" />PMID:25043047; <ref name=":33" />PMID:22820256; <ref name=":34" />PMID:26976201 <ref name=":34" />PMID:20823417; <ref name=":35" />PMID:22265402; <ref name=":36" />PMCID:3889646 <ref name=":37" />PMID:16567768; <ref name=":38" />PMID:20940197
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'''Rearrangement:''' idic(17)(p11.2)<br>
 
'''Rearrangement:''' idic(17)(p11.2)<br>
 
'''Ploidy changes:''' tetraploidy in 40-50% of Group3/Group4 tumors
 
'''Ploidy changes:''' tetraploidy in 40-50% of Group3/Group4 tumors
|'''Mutation/Amplification:''' MYC (mainly in infants), OTX2, CDK6, SMARC4A, CTDNEP1, LRP1B, KMT2D<br>
+
|'''Mutation/Amplification:''' [[MYC]] (mainly in infants), [[OTX2]], [[CDK6]], [[SMARC4A]], [[CTDNEP1]], [[LRP1B]], [[KMT2D]]<br>
'''Fusions:''' PVT1-MYC, PVT1-NDRG1; GFI1/GFI1B structural variants
+
'''Fusions:''' [[PVT1]]-[[MYC]], [[PVT1]]-[[NDRG1]]; [[GFI1]]/[[GFI1B]] structural variants
 
|Usually classic histology, ~ 50% are metastatic at time of diagnosis, Not generally observed in adults
 
|Usually classic histology, ~ 50% are metastatic at time of diagnosis, Not generally observed in adults
 
|<ref name=":28" />PMID:22832581, <ref name=":32" />PMID:25043047; <ref name=":29" />PMID:24493713 <ref name=":30" />PMID:22134537; <ref name=":31" />PMID:22358457; <ref name=":33" />PMID:22820256; <ref name=":34" />PMID:26976201; <ref name=":34" />PMID:20823417 <ref name=":35" />PMID:22265402; <ref name=":36" />PMCID:3889646; <ref name=":37" />PMID:16567768  <ref name=":38" />PMID:20940197
 
|<ref name=":28" />PMID:22832581, <ref name=":32" />PMID:25043047; <ref name=":29" />PMID:24493713 <ref name=":30" />PMID:22134537; <ref name=":31" />PMID:22358457; <ref name=":33" />PMID:22820256; <ref name=":34" />PMID:26976201; <ref name=":34" />PMID:20823417 <ref name=":35" />PMID:22265402; <ref name=":36" />PMCID:3889646; <ref name=":37" />PMID:16567768  <ref name=":38" />PMID:20940197
Line 202: Line 202:
 
'''Rearrangement:''' idic(17)(p11.2) in >80%<br>
 
'''Rearrangement:''' idic(17)(p11.2) in >80%<br>
 
'''Chromothripsis:''' rare, but associated with TP53 loss when observed  
 
'''Chromothripsis:''' rare, but associated with TP53 loss when observed  
|'''Mutation:''' TP53, KDM6A, KMT2C <br>
+
|'''Mutation:''' [[TP53]], [[KDM6A]], [[KMT2C]] <br>
'''Amplification:''' MYCN, CDK4, CDK6, OTX2<br>
+
'''Amplification:''' [[MYCN]], [[CDK4]], [[CDK6]], [[OTX2]]<br>
'''Rearrangement:''' SNCAIP tandem duplication; GFI1/GFI1B structural variants
+
'''Rearrangement:''' [[SNCAIP]] tandem duplication; [[GFI1]]/[[GFI1B]] structural variants
 
|Rarely seen in infants; usually classic histology
 
|Rarely seen in infants; usually classic histology
 
|<ref name=":28" />PMID:22832581; <ref name=":32" />PMID:25043047; <ref name=":29" />PMID:24493713; <ref name=":30" />PMID:22134537; <ref name=":31" />PMID:22358457; <ref name=":33" />PMID:22820256; <ref name=":34" />PMID:26976201; <ref name=":34" />PMID:20823417 <ref name=":35" />PMID:22265402; <ref name=":36" />PMCID:3889646; <ref name=":37" />PMID:16567768  <ref name=":38" />PMID:20940197
 
|<ref name=":28" />PMID:22832581; <ref name=":32" />PMID:25043047; <ref name=":29" />PMID:24493713; <ref name=":30" />PMID:22134537; <ref name=":31" />PMID:22358457; <ref name=":33" />PMID:22820256; <ref name=":34" />PMID:26976201; <ref name=":34" />PMID:20823417 <ref name=":35" />PMID:22265402; <ref name=":36" />PMCID:3889646; <ref name=":37" />PMID:16567768  <ref name=":38" />PMID:20940197
Line 211: Line 211:
 
|
 
|
 
|'''Loss:''' 22/22q, though a subset of AT/RT-like tumors retain 22q
 
|'''Loss:''' 22/22q, though a subset of AT/RT-like tumors retain 22q
|Classic AT/RT: SMARCB1 mutation/deletion/exonic duplication in 98% of tumors<br>
+
|Classic AT/RT: [[SMARCB1]] mutation/deletion/exonic duplication in 98% of tumors<br>
AT/RT-like tumors: SMARCB1 can be retained (with SMARCA4 mutations)<br>
+
AT/RT-like tumors: [[SMARCB1]] can be retained (with [[SMARCA4]] mutations)<br>
 
'''Three molecular classes:'''<br>
 
'''Three molecular classes:'''<br>
'''TYR:''' ~ 75% show broad 22q loss that includes SMARCB1<br>
+
'''TYR:''' ~ 75% show broad 22q loss that includes [[SMARCB1]]<br>
'''SHH:''' ~ 50% lack any SMARCB1 mutation; ~ 25% have focal SMARCB1 aberrations<br>
+
'''SHH:''' ~ 50% lack any [[SMARCB1]] mutation; ~ 25% have focal [[SMARCB1]] aberrations<br>
'''MYC:''' ~ 75% show focal SMARCB1 loss
+
'''MYC:''' ~ 75% show focal [[SMARCB1]] loss
 
|Most cases occur before 3 yrs of age<br>
 
|Most cases occur before 3 yrs of age<br>
 
TYR subclass: mostly infratentorial<br>
 
TYR subclass: mostly infratentorial<br>
Line 237: Line 237:
 
'''CNS HGNET-MN1 group:''' 16q loss, polysomy 8<br>
 
'''CNS HGNET-MN1 group:''' 16q loss, polysomy 8<br>
 
'''CNS HGNET-BCOR group:''' mostly balanced genomes
 
'''CNS HGNET-BCOR group:''' mostly balanced genomes
|'''CNS NB-FOXR2 group:''' JMJD1C fusions, FOXR2 fusion or deletion<br>
+
|'''CNS NB-FOXR2 group:''' [[JMJD1C]] fusions, [[FOXR2]] fusion or deletion<br>
'''CNS EFT-CIC group:''' NUTM1 rearrangement/fusion, CIC rearrangement<br>
+
'''CNS EFT-CIC group:''' [[NUTM1]] rearrangement/fusion, [[CIC]] rearrangement<br>
'''CNS HGNET-MN1 group:''' MN1 rearrangement <br>
+
'''CNS HGNET-MN1 group:''' [[MN1]] rearrangement <br>
'''CNS HGNET-BCOR group:''' BCOR intragenic tandem duplication
+
'''CNS HGNET-BCOR group:''' [[BCOR]] intragenic tandem duplication
 
|Most common in children, but may also occur in adolescents and adults
 
|Most common in children, but may also occur in adolescents and adults
 
|WHO CNS Tumors (2016)<br>
 
|WHO CNS Tumors (2016)<br>
Line 259: Line 259:
 
'''Gain:''' 1, 7, 12, 20 in > 80% of hyperdiploid CPCs<br>
 
'''Gain:''' 1, 7, 12, 20 in > 80% of hyperdiploid CPCs<br>
 
'''Loss:''' 3 (in all hypodiploid CPC), 6, 11, 12q, 16, 22
 
'''Loss:''' 3 (in all hypodiploid CPC), 6, 11, 12q, 16, 22
|'''Mutation:''' TP53 in > 50%<br>
+
|'''Mutation:''' [[TP53]] in > 50%<br>
'''Amplification:''' PDGFRB  
+
'''Amplification:''' [[PDGFRB]]
 
|80% occur in children; associated with Li-Fraumeni syndrome; Lack of SMARCB1/SMARCA4 aberrations can be used to distinguish CPC from AT/RT
 
|80% occur in children; associated with Li-Fraumeni syndrome; Lack of SMARCB1/SMARCA4 aberrations can be used to distinguish CPC from AT/RT
 
|<ref>{{Cite journal|last=Ruland|first=Vincent|last2=Hartung|first2=Stefan|last3=Kordes|first3=Uwe|last4=Wolff|first4=Johannes E.|last5=Paulus|first5=Werner|last6=Hasselblatt|first6=Martin|date=2014-05|title=Choroid plexus carcinomas are characterized by complex chromosomal alterations related to patient age and prognosis|url=https://pubmed.ncbi.nlm.nih.gov/24478045|journal=Genes, Chromosomes & Cancer|volume=53|issue=5|pages=373–380|doi=10.1002/gcc.22148|issn=1098-2264|pmid=24478045}}</ref>PMID:24478045; <ref>{{Cite journal|last=Gozali|first=Alexa E.|last2=Britt|first2=Barbara|last3=Shane|first3=Lisa|last4=Gonzalez|first4=Ignacio|last5=Gilles|first5=Floyd|last6=McComb|first6=J. Gordon|last7=Krieger|first7=Mark D.|last8=Lavey|first8=Robert S.|last9=Shlien|first9=Adam|date=2012-06|title=Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010|url=https://pubmed.ncbi.nlm.nih.gov/21990040|journal=Pediatric Blood & Cancer|volume=58|issue=6|pages=905–909|doi=10.1002/pbc.23349|issn=1545-5017|pmid=21990040}}</ref>PMID:21990040; <ref name=":39" />PMID:25575132; <ref>{{Cite journal|last=Nupponen|first=Nina N.|last2=Paulsson|first2=Janna|last3=Jeibmann|first3=Astrid|last4=Wrede|first4=Brigitte|last5=Tanner|first5=Minna|last6=Wolff|first6=Johannes E. A.|last7=Paulus|first7=Werner|last8=Ostman|first8=Arne|last9=Hasselblatt|first9=Martin|date=2008-03|title=Platelet-derived growth factor receptor expression and amplification in choroid plexus carcinomas|url=https://pubmed.ncbi.nlm.nih.gov/18157090|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=21|issue=3|pages=265–270|doi=10.1038/modpathol.3800989|issn=0893-3952|pmid=18157090}}</ref>PMID:18157090; <ref name=":40" />PMID:25336695
 
|<ref>{{Cite journal|last=Ruland|first=Vincent|last2=Hartung|first2=Stefan|last3=Kordes|first3=Uwe|last4=Wolff|first4=Johannes E.|last5=Paulus|first5=Werner|last6=Hasselblatt|first6=Martin|date=2014-05|title=Choroid plexus carcinomas are characterized by complex chromosomal alterations related to patient age and prognosis|url=https://pubmed.ncbi.nlm.nih.gov/24478045|journal=Genes, Chromosomes & Cancer|volume=53|issue=5|pages=373–380|doi=10.1002/gcc.22148|issn=1098-2264|pmid=24478045}}</ref>PMID:24478045; <ref>{{Cite journal|last=Gozali|first=Alexa E.|last2=Britt|first2=Barbara|last3=Shane|first3=Lisa|last4=Gonzalez|first4=Ignacio|last5=Gilles|first5=Floyd|last6=McComb|first6=J. Gordon|last7=Krieger|first7=Mark D.|last8=Lavey|first8=Robert S.|last9=Shlien|first9=Adam|date=2012-06|title=Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010|url=https://pubmed.ncbi.nlm.nih.gov/21990040|journal=Pediatric Blood & Cancer|volume=58|issue=6|pages=905–909|doi=10.1002/pbc.23349|issn=1545-5017|pmid=21990040}}</ref>PMID:21990040; <ref name=":39" />PMID:25575132; <ref>{{Cite journal|last=Nupponen|first=Nina N.|last2=Paulsson|first2=Janna|last3=Jeibmann|first3=Astrid|last4=Wrede|first4=Brigitte|last5=Tanner|first5=Minna|last6=Wolff|first6=Johannes E. A.|last7=Paulus|first7=Werner|last8=Ostman|first8=Arne|last9=Hasselblatt|first9=Martin|date=2008-03|title=Platelet-derived growth factor receptor expression and amplification in choroid plexus carcinomas|url=https://pubmed.ncbi.nlm.nih.gov/18157090|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=21|issue=3|pages=265–270|doi=10.1038/modpathol.3800989|issn=0893-3952|pmid=18157090}}</ref>PMID:18157090; <ref name=":40" />PMID:25336695
 
|}
 
|}
  
'''Table 2:''' Adult CNS Tumors. Table derived from CGC CNS Workgroup 2015-2018.
+
'''Table 2:''' Adult CNS Tumors. CGC CNS Workgroup 2015-2018. Table derived from Neill et al., 2020 [[https://pubmed.ncbi.nlm.nih.gov/32203924/ PMID: 32203924]] with permission from Cancer Genetics.
 
{| class="wikitable"
 
{| class="wikitable"
 
|-
 
|-
Line 286: Line 286:
 
|'''Gain:''' 5, 7, 6, 11<br>
 
|'''Gain:''' 5, 7, 6, 11<br>
 
'''Loss:''' 1, 2, 3, 13, 14, 16, 17, 19
 
'''Loss:''' 1, 2, 3, 13, 14, 16, 17, 19
|'''Fusion:''' KIAA1549-BRAF fusion (via 3'BRAF duplication), other BRAF partners reported; NTRK fusions (rare)<br>
+
|'''Fusion:''' [[KIAA1549]]-[[BRAF]] fusion (via 3'[[BRAF]] duplication), other [[BRAF]] partners reported; NTRK fusions (rare)<br>
'''Mutation:''' FGFR1  
+
'''Mutation:''' [[FGFR1]]
 
|Aneuploidy is more predominant in adult PA; Infratentorial tumors are more likely to have BRAF fusions/dup and be wildtype for BRAF mutations; Extra-cerebellar tumors are more likely to be BRAF V600E+, but negative for fusion; Surgical resection can be curative
 
|Aneuploidy is more predominant in adult PA; Infratentorial tumors are more likely to have BRAF fusions/dup and be wildtype for BRAF mutations; Extra-cerebellar tumors are more likely to be BRAF V600E+, but negative for fusion; Surgical resection can be curative
 
|<ref>{{Cite journal|last=Theeler|first=Brett J.|last2=Ellezam|first2=Benjamin|last3=Sadighi|first3=Zsila S.|last4=Mehta|first4=Vidya|last5=Tran|first5=M. Diep|last6=Adesina|first6=Adekunle M.|last7=Bruner|first7=Janet M.|last8=Puduvalli|first8=Vinay K.|date=2014-06|title=Adult pilocytic astrocytomas: clinical features and molecular analysis|url=https://pubmed.ncbi.nlm.nih.gov/24470550|journal=Neuro-Oncology|volume=16|issue=6|pages=841–847|doi=10.1093/neuonc/not246|issn=1523-5866|pmc=4022218|pmid=24470550}}</ref>PMID: 24470550; <ref name=":2" />PMID:26378811; <ref name=":1" />PMID: 25664944; <ref>{{Cite journal|last=Strowd|first=Roy E.|last2=Rodriguez|first2=Fausto J.|last3=McLendon|first3=Roger E.|last4=Vredenburgh|first4=James J.|last5=Chance|first5=Aaron B.|last6=Jallo|first6=George|last7=Olivi|first7=Alessandro|last8=Ahn|first8=Edward S.|last9=Blakeley|first9=Jaishri O.|date=2016-06|title=Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1|url=https://pubmed.ncbi.nlm.nih.gov/26992069|journal=American Journal of Medical Genetics. Part A|volume=170|issue=6|pages=1455–1461|doi=10.1002/ajmg.a.37622|issn=1552-4833|pmc=4938896|pmid=26992069}}</ref>PMID:26992069
 
|<ref>{{Cite journal|last=Theeler|first=Brett J.|last2=Ellezam|first2=Benjamin|last3=Sadighi|first3=Zsila S.|last4=Mehta|first4=Vidya|last5=Tran|first5=M. Diep|last6=Adesina|first6=Adekunle M.|last7=Bruner|first7=Janet M.|last8=Puduvalli|first8=Vinay K.|date=2014-06|title=Adult pilocytic astrocytomas: clinical features and molecular analysis|url=https://pubmed.ncbi.nlm.nih.gov/24470550|journal=Neuro-Oncology|volume=16|issue=6|pages=841–847|doi=10.1093/neuonc/not246|issn=1523-5866|pmc=4022218|pmid=24470550}}</ref>PMID: 24470550; <ref name=":2" />PMID:26378811; <ref name=":1" />PMID: 25664944; <ref>{{Cite journal|last=Strowd|first=Roy E.|last2=Rodriguez|first2=Fausto J.|last3=McLendon|first3=Roger E.|last4=Vredenburgh|first4=James J.|last5=Chance|first5=Aaron B.|last6=Jallo|first6=George|last7=Olivi|first7=Alessandro|last8=Ahn|first8=Edward S.|last9=Blakeley|first9=Jaishri O.|date=2016-06|title=Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1|url=https://pubmed.ncbi.nlm.nih.gov/26992069|journal=American Journal of Medical Genetics. Part A|volume=170|issue=6|pages=1455–1461|doi=10.1002/ajmg.a.37622|issn=1552-4833|pmc=4938896|pmid=26992069}}</ref>PMID:26992069
Line 296: Line 296:
 
'''Loss:''' monosomy 9 / 9p deletion most common, 22, 14, 13, 10<br>
 
'''Loss:''' monosomy 9 / 9p deletion most common, 22, 14, 13, 10<br>
 
'''CN-LOH:''' 9p, 22
 
'''CN-LOH:''' 9p, 22
|'''Loss:''' homozygous loss CDKN2A/B<br>
+
|'''Loss:''' homozygous loss [[CDKN2A]]/[[CDKN2B]]<br>
Mutation: BRAF V600E
+
Mutation: [[BRAF]] V600E
 
|Adults and pediatric tumors show similar CNVs; CDKN2A/CDKN2B loss may correlate with anaplastic histology
 
|Adults and pediatric tumors show similar CNVs; CDKN2A/CDKN2B loss may correlate with anaplastic histology
 
|<ref name=":41">{{Cite journal|last=Chappé|first=Céline|last2=Padovani|first2=Laetitia|last3=Scavarda|first3=Didier|last4=Forest|first4=Fabien|last5=Nanni-Metellus|first5=Isabelle|last6=Loundou|first6=Anderson|last7=Mercurio|first7=Sandy|last8=Fina|first8=Frédéric|last9=Lena|first9=Gabriel|date=2013-09|title=Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression|url=https://pubmed.ncbi.nlm.nih.gov/23442159|journal=Brain Pathology (Zurich, Switzerland)|volume=23|issue=5|pages=574–583|doi=10.1111/bpa.12048|issn=1750-3639|pmid=23442159}}</ref>PMID:23442159; <ref>{{Cite journal|last=Vaubel|first=Rachael A.|last2=Caron|first2=Alissa A.|last3=Yamada|first3=Seiji|last4=Decker|first4=Paul A.|last5=Eckel Passow|first5=Jeanette E.|last6=Rodriguez|first6=Fausto J.|last7=Nageswara Rao|first7=Amulya A.|last8=Lachance|first8=Daniel|last9=Parney|first9=Ian|date=2018-03|title=Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation|url=https://pubmed.ncbi.nlm.nih.gov/28181325|journal=Brain Pathology (Zurich, Switzerland)|volume=28|issue=2|pages=172–182|doi=10.1111/bpa.12495|issn=1750-3639|pmc=5807227|pmid=28181325}}</ref>PMID:28181325
 
|<ref name=":41">{{Cite journal|last=Chappé|first=Céline|last2=Padovani|first2=Laetitia|last3=Scavarda|first3=Didier|last4=Forest|first4=Fabien|last5=Nanni-Metellus|first5=Isabelle|last6=Loundou|first6=Anderson|last7=Mercurio|first7=Sandy|last8=Fina|first8=Frédéric|last9=Lena|first9=Gabriel|date=2013-09|title=Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression|url=https://pubmed.ncbi.nlm.nih.gov/23442159|journal=Brain Pathology (Zurich, Switzerland)|volume=23|issue=5|pages=574–583|doi=10.1111/bpa.12048|issn=1750-3639|pmid=23442159}}</ref>PMID:23442159; <ref>{{Cite journal|last=Vaubel|first=Rachael A.|last2=Caron|first2=Alissa A.|last3=Yamada|first3=Seiji|last4=Decker|first4=Paul A.|last5=Eckel Passow|first5=Jeanette E.|last6=Rodriguez|first6=Fausto J.|last7=Nageswara Rao|first7=Amulya A.|last8=Lachance|first8=Daniel|last9=Parney|first9=Ian|date=2018-03|title=Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation|url=https://pubmed.ncbi.nlm.nih.gov/28181325|journal=Brain Pathology (Zurich, Switzerland)|volume=28|issue=2|pages=172–182|doi=10.1111/bpa.12495|issn=1750-3639|pmc=5807227|pmid=28181325}}</ref>PMID:28181325
Line 305: Line 305:
 
|'''Gain:''' polysomy 5, polysomy 7, 10p<br>
 
|'''Gain:''' polysomy 5, polysomy 7, 10p<br>
 
'''Loss:''' 1p loss, monosomy (with focal CDKN2A loss)
 
'''Loss:''' 1p loss, monosomy (with focal CDKN2A loss)
|'''Mutation:''' BRAF V600E , TSC1, TSC2, FGFR1, FGFR2, KRAS
+
|'''Mutation:''' [[BRAF]] V600E, [[TSC1]], [[TSC2]], [[FGFR1]], [[FGFR2]], [[KRAS]]
 
|Generally indolent tumors; surgical resection can be curative
 
|Generally indolent tumors; surgical resection can be curative
 
|<ref name=":41" />PMID:23442159; <ref>{{Cite journal|last=Prabowo|first=Avanita S.|last2=van Thuijl|first2=Hinke Foka|last3=Scheinin|first3=Ilari|last4=Sie|first4=Daoud|last5=van Essen|first5=Hendrik F.|last6=Iyer|first6=Anand M.|last7=Spliet|first7=Wim G. M.|last8=Ferrier|first8=Cyrille H.|last9=van Rijen|first9=Peter C.|date=2015-10|title=Landscape of chromosomal copy number aberrations in gangliogliomas and dysembryoplastic neuroepithelial tumours|url=https://pubmed.ncbi.nlm.nih.gov/25764012|journal=Neuropathology and Applied Neurobiology|volume=41|issue=6|pages=743–755|doi=10.1111/nan.12235|issn=1365-2990|pmid=25764012}}</ref>PMID:25764012; <ref name=":7" />PMID:29880043
 
|<ref name=":41" />PMID:23442159; <ref>{{Cite journal|last=Prabowo|first=Avanita S.|last2=van Thuijl|first2=Hinke Foka|last3=Scheinin|first3=Ilari|last4=Sie|first4=Daoud|last5=van Essen|first5=Hendrik F.|last6=Iyer|first6=Anand M.|last7=Spliet|first7=Wim G. M.|last8=Ferrier|first8=Cyrille H.|last9=van Rijen|first9=Peter C.|date=2015-10|title=Landscape of chromosomal copy number aberrations in gangliogliomas and dysembryoplastic neuroepithelial tumours|url=https://pubmed.ncbi.nlm.nih.gov/25764012|journal=Neuropathology and Applied Neurobiology|volume=41|issue=6|pages=743–755|doi=10.1111/nan.12235|issn=1365-2990|pmid=25764012}}</ref>PMID:25764012; <ref name=":7" />PMID:29880043
Line 312: Line 312:
 
|Angiocentric glioma
 
|Angiocentric glioma
 
|'''Loss:''' 6q24-q25
 
|'''Loss:''' 6q24-q25
|'''Fusion:''' MYB-QKI rearrangement/deletion (classic histology)<br>
+
|'''Fusion:''' [[MYB]]-[[QKI]] rearrangement/deletion (classic histology)<br>
'''Rearrangement:''' MYB alone (atypical histology)<br>
+
'''Rearrangement:''' [[MYB]] alone (atypical histology)<br>
'''Amplification:''' MYB (atypical histology)
+
'''Amplification:''' [[MYB]] (atypical histology)
 
|Generally indolent tumors; surgical resection can be curative
 
|Generally indolent tumors; surgical resection can be curative
 
|<ref name=":5" />PMID:26829751
 
|<ref name=":5" />PMID:26829751
Line 321: Line 321:
 
|Dysembryoplastic neuroepithelial tumor (DNET)
 
|Dysembryoplastic neuroepithelial tumor (DNET)
 
|No specific changes
 
|No specific changes
|'''Mutation:''' intragenic duplication or mutation FGFR1; BRAF V600E
+
|'''Mutation:''' intragenic duplication or mutation [[FGFR1]]; [[BRAF]] V600E
 
|Rare in adults; Benign with excellent prognosis even with subtotal resection
 
|Rare in adults; Benign with excellent prognosis even with subtotal resection
 
|<ref>{{Cite journal|last=Rivera|first=Barbara|last2=Gayden|first2=Tenzin|last3=Carrot-Zhang|first3=Jian|last4=Nadaf|first4=Javad|last5=Boshari|first5=Talia|last6=Faury|first6=Damien|last7=Zeinieh|first7=Michele|last8=Blanc|first8=Romeo|last9=Burk|first9=David L.|date=2016-06|title=Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors|url=https://pubmed.ncbi.nlm.nih.gov/26920151|journal=Acta Neuropathologica|volume=131|issue=6|pages=847–863|doi=10.1007/s00401-016-1549-x|issn=1432-0533|pmc=5039033|pmid=26920151}}</ref>PMID:26920151; <ref name=":41" />PMID:23442159; <ref>{{Cite journal|last=Thom|first=Maria|last2=Toma|first2=Ahmed|last3=An|first3=Shu|last4=Martinian|first4=Lillian|last5=Hadjivassiliou|first5=George|last6=Ratilal|first6=Bernardo|last7=Dean|first7=Andrew|last8=McEvoy|first8=Andrew|last9=Sisodiya|first9=Sanjay M.|date=2011-10|title=One hundred and one dysembryoplastic neuroepithelial tumors: an adult epilepsy series with immunohistochemical, molecular genetic, and clinical correlations and a review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/21937911|journal=Journal of Neuropathology and Experimental Neurology|volume=70|issue=10|pages=859–878|doi=10.1097/NEN.0b013e3182302475|issn=1554-6578|pmid=21937911}}</ref>PMID:21937911
 
|<ref>{{Cite journal|last=Rivera|first=Barbara|last2=Gayden|first2=Tenzin|last3=Carrot-Zhang|first3=Jian|last4=Nadaf|first4=Javad|last5=Boshari|first5=Talia|last6=Faury|first6=Damien|last7=Zeinieh|first7=Michele|last8=Blanc|first8=Romeo|last9=Burk|first9=David L.|date=2016-06|title=Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors|url=https://pubmed.ncbi.nlm.nih.gov/26920151|journal=Acta Neuropathologica|volume=131|issue=6|pages=847–863|doi=10.1007/s00401-016-1549-x|issn=1432-0533|pmc=5039033|pmid=26920151}}</ref>PMID:26920151; <ref name=":41" />PMID:23442159; <ref>{{Cite journal|last=Thom|first=Maria|last2=Toma|first2=Ahmed|last3=An|first3=Shu|last4=Martinian|first4=Lillian|last5=Hadjivassiliou|first5=George|last6=Ratilal|first6=Bernardo|last7=Dean|first7=Andrew|last8=McEvoy|first8=Andrew|last9=Sisodiya|first9=Sanjay M.|date=2011-10|title=One hundred and one dysembryoplastic neuroepithelial tumors: an adult epilepsy series with immunohistochemical, molecular genetic, and clinical correlations and a review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/21937911|journal=Journal of Neuropathology and Experimental Neurology|volume=70|issue=10|pages=859–878|doi=10.1097/NEN.0b013e3182302475|issn=1554-6578|pmid=21937911}}</ref>PMID:21937911
Line 330: Line 330:
 
'''Loss:''' 1p<br>
 
'''Loss:''' 1p<br>
 
'''Amplification:''' 9q34.2, 19p13.3
 
'''Amplification:''' 9q34.2, 19p13.3
|'''Fusion:''' KIAA1549-BRAF fusion (via 3'BRAF duplication)<br>
+
|'''Fusion:''' [[KIAA1549]]-[[BRAF]] fusion (via 3'[[BRAF]] duplication)<br>
'''Mutation:''' PIK3CA, FGFR1<br>
+
'''Mutation:''' [[PIK3CA]], [[FGFR1]]<br>
'''Amplification:''' SBNO2
+
'''Amplification:''' [[SBNO2]]
 
|Generally indolent tumors; surgical resection can be curative
 
|Generally indolent tumors; surgical resection can be curative
 
|<ref>{{Cite journal|last=Kitamura|first=Yohei|last2=Komori|first2=Takashi|last3=Shibuya|first3=Makoto|last4=Ohara|first4=Kentaro|last5=Saito|first5=Yuko|last6=Hayashi|first6=Saeko|last7=Sasaki|first7=Aya|last8=Nakagawa|first8=Eiji|last9=Tomio|first9=Ryosuke|date=2018-01|title=Comprehensive genetic characterization of rosette-forming glioneuronal tumors: independent component analysis by tissue microdissection|url=https://pubmed.ncbi.nlm.nih.gov/27893178|journal=Brain Pathology (Zurich, Switzerland)|volume=28|issue=1|pages=87–93|doi=10.1111/bpa.12468|issn=1750-3639|pmid=27893178}}</ref>PMID:27893178; <ref>{{Cite journal|last=Bidinotto|first=Lucas Tadeu|last2=Scapulatempo-Neto|first2=Cristovam|last3=Mackay|first3=Alan|last4=de Almeida|first4=Gisele Caravina|last5=Scheithauer|first5=Bernd Walter|last6=Berardinelli|first6=Gustavo Noriz|last7=Torrieri|first7=Raul|last8=Clara|first8=Carlos Afonso|last9=Feltrin|first9=Leonir Terezinha|date=2015|title=Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord|url=https://pubmed.ncbi.nlm.nih.gov/26371886|journal=PloS One|volume=10|issue=9|pages=e0137690|doi=10.1371/journal.pone.0137690|issn=1932-6203|pmc=4570813|pmid=26371886}}</ref>PMID:26371886
 
|<ref>{{Cite journal|last=Kitamura|first=Yohei|last2=Komori|first2=Takashi|last3=Shibuya|first3=Makoto|last4=Ohara|first4=Kentaro|last5=Saito|first5=Yuko|last6=Hayashi|first6=Saeko|last7=Sasaki|first7=Aya|last8=Nakagawa|first8=Eiji|last9=Tomio|first9=Ryosuke|date=2018-01|title=Comprehensive genetic characterization of rosette-forming glioneuronal tumors: independent component analysis by tissue microdissection|url=https://pubmed.ncbi.nlm.nih.gov/27893178|journal=Brain Pathology (Zurich, Switzerland)|volume=28|issue=1|pages=87–93|doi=10.1111/bpa.12468|issn=1750-3639|pmid=27893178}}</ref>PMID:27893178; <ref>{{Cite journal|last=Bidinotto|first=Lucas Tadeu|last2=Scapulatempo-Neto|first2=Cristovam|last3=Mackay|first3=Alan|last4=de Almeida|first4=Gisele Caravina|last5=Scheithauer|first5=Bernd Walter|last6=Berardinelli|first6=Gustavo Noriz|last7=Torrieri|first7=Raul|last8=Clara|first8=Carlos Afonso|last9=Feltrin|first9=Leonir Terezinha|date=2015|title=Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord|url=https://pubmed.ncbi.nlm.nih.gov/26371886|journal=PloS One|volume=10|issue=9|pages=e0137690|doi=10.1371/journal.pone.0137690|issn=1932-6203|pmc=4570813|pmid=26371886}}</ref>PMID:26371886
Line 340: Line 340:
 
|'''Gain:''' 4q, 7q, 8q24, 12q<br>
 
|'''Gain:''' 4q, 7q, 8q24, 12q<br>
 
'''Loss:''' 9p, 19q (without 1p)   
 
'''Loss:''' 9p, 19q (without 1p)   
|'''Gain:''' MYC <br>
+
|'''Gain:''' [[MYC]] <br>
'''Loss:''' CDKN2A/BPML15q22
+
'''Loss:''' [[CDKN2A]]/[[CDKN2B]][[PML]]15q22
 
|Better prognosis than IDH wildtype astrocytoma; Progression to grade IV will often involves loss of 10q,  gain of  CDK4, CDK6, and cyclin E2, and an increase in copy number alterations.
 
|Better prognosis than IDH wildtype astrocytoma; Progression to grade IV will often involves loss of 10q,  gain of  CDK4, CDK6, and cyclin E2, and an increase in copy number alterations.
 
|<ref name=":9" />PMID:26824661; <ref name=":42">{{Cite journal|last=Eckel-Passow|first=Jeanette E.|last2=Lachance|first2=Daniel H.|last3=Molinaro|first3=Annette M.|last4=Walsh|first4=Kyle M.|last5=Decker|first5=Paul A.|last6=Sicotte|first6=Hugues|last7=Pekmezci|first7=Melike|last8=Rice|first8=Terri|last9=Kosel|first9=Matt L.|date=2015-06-25|title=Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors|url=https://pubmed.ncbi.nlm.nih.gov/26061753|journal=The New England Journal of Medicine|volume=372|issue=26|pages=2499–2508|doi=10.1056/NEJMoa1407279|issn=1533-4406|pmc=4489704|pmid=26061753}}</ref>PMID:26061753; <ref name=":43">{{Cite journal|last=Neill|first=Stewart G.|last2=Fisher|first2=Kevin E.|date=2014-09-XX|title=Section III: molecular diagnostics in neuro-oncology|url=https://pubmed.ncbi.nlm.nih.gov/25263767|journal=Current Problems in Cancer|volume=38|issue=5|pages=175–179|doi=10.1016/j.currproblcancer.2014.08.006|issn=1535-6345|pmid=25263767}}</ref>PMID:25263767 <ref name=":44">{{Cite journal|last=Ellison|first=David W.|date=2015-06-25|title=Multiple Molecular Data Sets and the Classification of Adult Diffuse Gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26061754|journal=The New England Journal of Medicine|volume=372|issue=26|pages=2555–2557|doi=10.1056/NEJMe1506813|issn=1533-4406|pmid=26061754}}</ref>PMID:26061754; <ref name=":45">{{Cite journal|last=Park|first=Sung-Hye|last2=Won|first2=Jaekyung|last3=Kim|first3=Seong-Ik|last4=Lee|first4=Yujin|last5=Park|first5=Chul-Kee|last6=Kim|first6=Seung-Ki|last7=Choi|first7=Seung-Hong|date=2017-05|title=Molecular Testing of Brain Tumor|url=https://pubmed.ncbi.nlm.nih.gov/28535583|journal=Journal of Pathology and Translational Medicine|volume=51|issue=3|pages=205–223|doi=10.4132/jptm.2017.03.08|issn=2383-7837|pmc=5445205|pmid=28535583}}</ref>PMID:28535583; <ref name=":46">{{Cite journal|last=Cohen|first=Adam|last2=Sato|first2=Mariko|last3=Aldape|first3=Kenneth|last4=Mason|first4=Clinton C.|last5=Alfaro-Munoz|first5=Kristin|last6=Heathcock|first6=Lindsey|last7=South|first7=Sarah T.|last8=Abegglen|first8=Lisa M.|last9=Schiffman|first9=Joshua D.|date=2015-06-20|title=DNA copy number analysis of Grade II-III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status|url=https://pubmed.ncbi.nlm.nih.gov/26091668|journal=Acta Neuropathologica Communications|volume=3|pages=34|doi=10.1186/s40478-015-0213-3|issn=2051-5960|pmc=4474351|pmid=26091668}}</ref>PMID:26091668 <ref>{{Cite journal|last=Olar|first=Adriana|last2=Wani|first2=Khalida M.|last3=Alfaro-Munoz|first3=Kristin D.|last4=Heathcock|first4=Lindsey E.|last5=van Thuijl|first5=Hinke F.|last6=Gilbert|first6=Mark R.|last7=Armstrong|first7=Terri S.|last8=Sulman|first8=Erik P.|last9=Cahill|first9=Daniel P.|date=2015-04|title=IDH mutation status and role of WHO grade and mitotic index in overall survival in grade II-III diffuse gliomas|url=https://pubmed.ncbi.nlm.nih.gov/25701198|journal=Acta Neuropathologica|volume=129|issue=4|pages=585–596|doi=10.1007/s00401-015-1398-z|issn=1432-0533|pmc=4369189|pmid=25701198}}</ref>PMID: 25701198; <ref>{{Cite journal|last=Lhotska|first=Halka|last2=Zemanova|first2=Zuzana|last3=Cechova|first3=Hana|last4=Ransdorfova|first4=Sarka|last5=Svobodova|first5=Karla|last6=Kramar|first6=Filip|last7=Krejcik|first7=Zdenek|last8=Michalova|first8=Kyra|date=2016|title=Primary and recurrent diffuse astrocytomas: genomic profile comparison reveals acquisition of biologically relevant aberrations|url=https://pubmed.ncbi.nlm.nih.gov/26865861|journal=Molecular Cytogenetics|volume=9|pages=13|doi=10.1186/s13039-016-0222-3|issn=1755-8166|pmc=4748601|pmid=26865861}}</ref>PMID:26865861; <ref name=":13" />PMID:29687258
 
|<ref name=":9" />PMID:26824661; <ref name=":42">{{Cite journal|last=Eckel-Passow|first=Jeanette E.|last2=Lachance|first2=Daniel H.|last3=Molinaro|first3=Annette M.|last4=Walsh|first4=Kyle M.|last5=Decker|first5=Paul A.|last6=Sicotte|first6=Hugues|last7=Pekmezci|first7=Melike|last8=Rice|first8=Terri|last9=Kosel|first9=Matt L.|date=2015-06-25|title=Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors|url=https://pubmed.ncbi.nlm.nih.gov/26061753|journal=The New England Journal of Medicine|volume=372|issue=26|pages=2499–2508|doi=10.1056/NEJMoa1407279|issn=1533-4406|pmc=4489704|pmid=26061753}}</ref>PMID:26061753; <ref name=":43">{{Cite journal|last=Neill|first=Stewart G.|last2=Fisher|first2=Kevin E.|date=2014-09-XX|title=Section III: molecular diagnostics in neuro-oncology|url=https://pubmed.ncbi.nlm.nih.gov/25263767|journal=Current Problems in Cancer|volume=38|issue=5|pages=175–179|doi=10.1016/j.currproblcancer.2014.08.006|issn=1535-6345|pmid=25263767}}</ref>PMID:25263767 <ref name=":44">{{Cite journal|last=Ellison|first=David W.|date=2015-06-25|title=Multiple Molecular Data Sets and the Classification of Adult Diffuse Gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26061754|journal=The New England Journal of Medicine|volume=372|issue=26|pages=2555–2557|doi=10.1056/NEJMe1506813|issn=1533-4406|pmid=26061754}}</ref>PMID:26061754; <ref name=":45">{{Cite journal|last=Park|first=Sung-Hye|last2=Won|first2=Jaekyung|last3=Kim|first3=Seong-Ik|last4=Lee|first4=Yujin|last5=Park|first5=Chul-Kee|last6=Kim|first6=Seung-Ki|last7=Choi|first7=Seung-Hong|date=2017-05|title=Molecular Testing of Brain Tumor|url=https://pubmed.ncbi.nlm.nih.gov/28535583|journal=Journal of Pathology and Translational Medicine|volume=51|issue=3|pages=205–223|doi=10.4132/jptm.2017.03.08|issn=2383-7837|pmc=5445205|pmid=28535583}}</ref>PMID:28535583; <ref name=":46">{{Cite journal|last=Cohen|first=Adam|last2=Sato|first2=Mariko|last3=Aldape|first3=Kenneth|last4=Mason|first4=Clinton C.|last5=Alfaro-Munoz|first5=Kristin|last6=Heathcock|first6=Lindsey|last7=South|first7=Sarah T.|last8=Abegglen|first8=Lisa M.|last9=Schiffman|first9=Joshua D.|date=2015-06-20|title=DNA copy number analysis of Grade II-III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status|url=https://pubmed.ncbi.nlm.nih.gov/26091668|journal=Acta Neuropathologica Communications|volume=3|pages=34|doi=10.1186/s40478-015-0213-3|issn=2051-5960|pmc=4474351|pmid=26091668}}</ref>PMID:26091668 <ref>{{Cite journal|last=Olar|first=Adriana|last2=Wani|first2=Khalida M.|last3=Alfaro-Munoz|first3=Kristin D.|last4=Heathcock|first4=Lindsey E.|last5=van Thuijl|first5=Hinke F.|last6=Gilbert|first6=Mark R.|last7=Armstrong|first7=Terri S.|last8=Sulman|first8=Erik P.|last9=Cahill|first9=Daniel P.|date=2015-04|title=IDH mutation status and role of WHO grade and mitotic index in overall survival in grade II-III diffuse gliomas|url=https://pubmed.ncbi.nlm.nih.gov/25701198|journal=Acta Neuropathologica|volume=129|issue=4|pages=585–596|doi=10.1007/s00401-015-1398-z|issn=1432-0533|pmc=4369189|pmid=25701198}}</ref>PMID: 25701198; <ref>{{Cite journal|last=Lhotska|first=Halka|last2=Zemanova|first2=Zuzana|last3=Cechova|first3=Hana|last4=Ransdorfova|first4=Sarka|last5=Svobodova|first5=Karla|last6=Kramar|first6=Filip|last7=Krejcik|first7=Zdenek|last8=Michalova|first8=Kyra|date=2016|title=Primary and recurrent diffuse astrocytomas: genomic profile comparison reveals acquisition of biologically relevant aberrations|url=https://pubmed.ncbi.nlm.nih.gov/26865861|journal=Molecular Cytogenetics|volume=9|pages=13|doi=10.1186/s13039-016-0222-3|issn=1755-8166|pmc=4748601|pmid=26865861}}</ref>PMID:26865861; <ref name=":13" />PMID:29687258
Line 349: Line 349:
 
|'''Gain:''' 7, 19<br>
 
|'''Gain:''' 7, 19<br>
 
'''Loss:''' 4, 9p 10<br>
 
'''Loss:''' 4, 9p 10<br>
'''Amplification:''' EGFR, MDM4, CDK4  
+
'''Amplification:''' [[EGFR]], [[MDM4]], [[CDK4]]
|'''Loss:''' homozygous CDKN2A/B<br>
+
|'''Loss:''' homozygous [[CDKN2A]]/[[CDKN2B]]<br>
'''Mutation:''' EGFR, NF1, PTEN<br>
+
'''Mutation:''' [[EGFR]], [[NF1]], [[PTEN]]<br>
'''Amplification:'''  EGFR, MDM4, CDK4
+
'''Amplification:'''  [[EGFR]], [[MDM4]], [[CDK4]]
 
|Poor prognosis with similar abnormalities to glioblastoma
 
|Poor prognosis with similar abnormalities to glioblastoma
 
|<ref name=":44" />PMID:26061754; <ref name=":9" />PMID:26824661; <ref name=":45" />PMID:28535583 <ref name=":46" />PMID:26091668; <ref>{{Cite journal|last=Qaddoumi|first=Ibrahim|last2=Orisme|first2=Wilda|last3=Wen|first3=Ji|last4=Santiago|first4=Teresa|last5=Gupta|first5=Kirti|last6=Dalton|first6=James D.|last7=Tang|first7=Bo|last8=Haupfear|first8=Kelly|last9=Punchihewa|first9=Chandanamali|date=2016-06|title=Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology|url=https://pubmed.ncbi.nlm.nih.gov/26810070|journal=Acta Neuropathologica|volume=131|issue=6|pages=833–845|doi=10.1007/s00401-016-1539-z|issn=1432-0533|pmc=4866893|pmid=26810070}}</ref>PMID:26810070
 
|<ref name=":44" />PMID:26061754; <ref name=":9" />PMID:26824661; <ref name=":45" />PMID:28535583 <ref name=":46" />PMID:26091668; <ref>{{Cite journal|last=Qaddoumi|first=Ibrahim|last2=Orisme|first2=Wilda|last3=Wen|first3=Ji|last4=Santiago|first4=Teresa|last5=Gupta|first5=Kirti|last6=Dalton|first6=James D.|last7=Tang|first7=Bo|last8=Haupfear|first8=Kelly|last9=Punchihewa|first9=Chandanamali|date=2016-06|title=Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology|url=https://pubmed.ncbi.nlm.nih.gov/26810070|journal=Acta Neuropathologica|volume=131|issue=6|pages=833–845|doi=10.1007/s00401-016-1539-z|issn=1432-0533|pmc=4866893|pmid=26810070}}</ref>PMID:26810070
Line 360: Line 360:
 
|'''Rearrangement:''' der(1;19)(q10;p10) leads to 1p/19q co-deletion<br>
 
|'''Rearrangement:''' der(1;19)(q10;p10) leads to 1p/19q co-deletion<br>
 
'''Loss:''' 1p/19q, 9p, 14q, less frequent 4, 18q
 
'''Loss:''' 1p/19q, 9p, 14q, less frequent 4, 18q
|'''Gain:''' MYC<br>
+
|'''Gain:''' [[MYC]]<br>
'''Loss:''' MAX (14q), FBXW7, CDN2KA/B<br>
+
'''Loss:''' [[MAX]] (14q), [[FBXW7]], [[CDKN2A]]/[[CDKN2B]]<br>
'''Mutation:''' FUBP1, CIC, IDH, TERT, NOTCH1, PIK3CA or PIK3R1
+
'''Mutation:''' [[FUBP1]], [[CIC]], IDH, [[TERT]], [[NOTCH1]], [[PIK3CA]] or [[PIK3R1]]
 
|Activation of MYC pathway is often seen with loss of  9p (CDKN2A/B), and 14q (MAX gene)  and is reported to have a worse prognosis
 
|Activation of MYC pathway is often seen with loss of  9p (CDKN2A/B), and 14q (MAX gene)  and is reported to have a worse prognosis
 
|<ref>{{Cite journal|last=Kamoun|first=Aurélie|last2=Idbaih|first2=Ahmed|last3=Dehais|first3=Caroline|last4=Elarouci|first4=Nabila|last5=Carpentier|first5=Catherine|last6=Letouzé|first6=Eric|last7=Colin|first7=Carole|last8=Mokhtari|first8=Karima|last9=Jouvet|first9=Anne|date=2016-04-19|title=Integrated multi-omics analysis of oligodendroglial tumours identifies three subgroups of 1p/19q co-deleted gliomas|url=https://pubmed.ncbi.nlm.nih.gov/27090007|journal=Nature Communications|volume=7|pages=11263|doi=10.1038/ncomms11263|issn=2041-1723|pmc=4838899|pmid=27090007}}</ref>PMID:27090007; <ref name=":42" />PMID:26061753; <ref name=":43" />PMID:25263767 <ref name=":44" />PMID:26061754; <ref>{{Cite journal|last=Alentorn|first=Agustí|last2=van Thuijl|first2=Hinke F.|last3=Marie|first3=Yannick|last4=Alshehhi|first4=Hussa|last5=Carpentier|first5=Catherine|last6=Boisselier|first6=Blandine|last7=Laigle-Donadey|first7=Florence|last8=Mokhtari|first8=Karima|last9=Scheinin|first9=Ilari|date=2014-03|title=Clinical value of chromosome arms 19q and 11p losses in low-grade gliomas|url=https://pubmed.ncbi.nlm.nih.gov/24335697|journal=Neuro-Oncology|volume=16|issue=3|pages=400–408|doi=10.1093/neuonc/not227|issn=1523-5866|pmc=3922518|pmid=24335697}}</ref>PMID:24335697; <ref name=":1" />PMID:25664944; <ref>{{Cite journal|last=Rice|first=Terri|last2=Lachance|first2=Daniel H.|last3=Molinaro|first3=Annette M.|last4=Eckel-Passow|first4=Jeanette E.|last5=Walsh|first5=Kyle M.|last6=Barnholtz-Sloan|first6=Jill|last7=Ostrom|first7=Quinn T.|last8=Francis|first8=Stephen S.|last9=Wiemels|first9=Joseph|date=2016-03|title=Understanding inherited genetic risk of adult glioma - a review|url=https://pubmed.ncbi.nlm.nih.gov/26941959|journal=Neuro-Oncology Practice|volume=3|issue=1|pages=10–16|doi=10.1093/nop/npv026|issn=2054-2577|pmc=4774334|pmid=26941959}}</ref>PMID:26941959; <ref name=":9" />PMID:26824661 <ref name=":8" />PMID:26061751
 
|<ref>{{Cite journal|last=Kamoun|first=Aurélie|last2=Idbaih|first2=Ahmed|last3=Dehais|first3=Caroline|last4=Elarouci|first4=Nabila|last5=Carpentier|first5=Catherine|last6=Letouzé|first6=Eric|last7=Colin|first7=Carole|last8=Mokhtari|first8=Karima|last9=Jouvet|first9=Anne|date=2016-04-19|title=Integrated multi-omics analysis of oligodendroglial tumours identifies three subgroups of 1p/19q co-deleted gliomas|url=https://pubmed.ncbi.nlm.nih.gov/27090007|journal=Nature Communications|volume=7|pages=11263|doi=10.1038/ncomms11263|issn=2041-1723|pmc=4838899|pmid=27090007}}</ref>PMID:27090007; <ref name=":42" />PMID:26061753; <ref name=":43" />PMID:25263767 <ref name=":44" />PMID:26061754; <ref>{{Cite journal|last=Alentorn|first=Agustí|last2=van Thuijl|first2=Hinke F.|last3=Marie|first3=Yannick|last4=Alshehhi|first4=Hussa|last5=Carpentier|first5=Catherine|last6=Boisselier|first6=Blandine|last7=Laigle-Donadey|first7=Florence|last8=Mokhtari|first8=Karima|last9=Scheinin|first9=Ilari|date=2014-03|title=Clinical value of chromosome arms 19q and 11p losses in low-grade gliomas|url=https://pubmed.ncbi.nlm.nih.gov/24335697|journal=Neuro-Oncology|volume=16|issue=3|pages=400–408|doi=10.1093/neuonc/not227|issn=1523-5866|pmc=3922518|pmid=24335697}}</ref>PMID:24335697; <ref name=":1" />PMID:25664944; <ref>{{Cite journal|last=Rice|first=Terri|last2=Lachance|first2=Daniel H.|last3=Molinaro|first3=Annette M.|last4=Eckel-Passow|first4=Jeanette E.|last5=Walsh|first5=Kyle M.|last6=Barnholtz-Sloan|first6=Jill|last7=Ostrom|first7=Quinn T.|last8=Francis|first8=Stephen S.|last9=Wiemels|first9=Joseph|date=2016-03|title=Understanding inherited genetic risk of adult glioma - a review|url=https://pubmed.ncbi.nlm.nih.gov/26941959|journal=Neuro-Oncology Practice|volume=3|issue=1|pages=10–16|doi=10.1093/nop/npv026|issn=2054-2577|pmc=4774334|pmid=26941959}}</ref>PMID:26941959; <ref name=":9" />PMID:26824661 <ref name=":8" />PMID:26061751
Line 370: Line 370:
 
|'''Gain:''' 1/1q, 6p<br>
 
|'''Gain:''' 1/1q, 6p<br>
 
'''Loss:''' 3p, 10, 13, 14, 15, 22 (3, 4q, 19q, 16p, 21q, 5p  seen in age <40)<br>
 
'''Loss:''' 3p, 10, 13, 14, 15, 22 (3, 4q, 19q, 16p, 21q, 5p  seen in age <40)<br>
'''Amplification:''' CDK6, cyclin E2, CDK4, MET<br>
+
'''Amplification:''' [[CDK6]], cyclin E2 ([[CCNE2]]), [[CDK4]], [[MET]]<br>
 
'''Chromothripsis'''
 
'''Chromothripsis'''
|'''Gain or Amplification:''' CDK4, CDK6, cyclin E2<br>
+
|'''Gain or Amplification:''' [[CDK4]], [[CDK6]], cyclin E2 ([[CCNE2]])<br>
'''Loss:''' PTEN  
+
'''Loss:''' [[PTEN]]
 
|About 10% of glioblastomas; correspond closely to secondary glioblastoma with history of prior glioma.  These cases often involve loss of 10q , gain of CDK4, CDK6, cyclin E2, and increase in copy number alterations.
 
|About 10% of glioblastomas; correspond closely to secondary glioblastoma with history of prior glioma.  These cases often involve loss of 10q , gain of CDK4, CDK6, cyclin E2, and increase in copy number alterations.
 
|<ref name=":44" />PMID:26061754; <ref name=":15" />PMID:25754088; <ref name=":45" />PMID:28535583 <ref name=":47">{{Cite journal|last=Geisenberger|first=Christoph|last2=Mock|first2=Andreas|last3=Warta|first3=Rolf|last4=Rapp|first4=Carmen|last5=Schwager|first5=Christian|last6=Korshunov|first6=Andrey|last7=Nied|first7=Ann-Katrin|last8=Capper|first8=David|last9=Brors|first9=Benedikt|date=2015-09|title=Molecular profiling of long-term survivors identifies a subgroup of glioblastoma characterized by chromosome 19/20 co-gain|url=https://pubmed.ncbi.nlm.nih.gov/25931051|journal=Acta Neuropathologica|volume=130|issue=3|pages=419–434|doi=10.1007/s00401-015-1427-y|issn=1432-0533|pmid=25931051}}</ref>PMID:25931051; <ref name=":46" />PMID:26091668; <ref name=":0" />PMID:25461780; <ref name=":48">{{Cite journal|last=Louis|first=David N.|last2=Perry|first2=Arie|last3=Reifenberger|first3=Guido|last4=von Deimling|first4=Andreas|last5=Figarella-Branger|first5=Dominique|last6=Cavenee|first6=Webster K.|last7=Ohgaki|first7=Hiroko|last8=Wiestler|first8=Otmar D.|last9=Kleihues|first9=Paul|date=2016-06|title=The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary|url=https://pubmed.ncbi.nlm.nih.gov/27157931|journal=Acta Neuropathologica|volume=131|issue=6|pages=803–820|doi=10.1007/s00401-016-1545-1|issn=1432-0533|pmid=27157931}}</ref>PMID:27157931; <ref name=":14" />PMID:25727226; <ref>{{Cite journal|last=Liu|first=Qun|last2=Liu|first2=Yuexin|last3=Li|first3=Wenliang|last4=Wang|first4=Xiaoguang|last5=Sawaya|first5=Raymond|last6=Lang|first6=Frederick F.|last7=Yung|first7=W. K. Alfred|last8=Chen|first8=Kexin|last9=Fuller|first9=Gregory N.|date=2015-10|title=Genetic, epigenetic, and molecular landscapes of multifocal and multicentric glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/26323991|journal=Acta Neuropathologica|volume=130|issue=4|pages=587–597|doi=10.1007/s00401-015-1470-8|issn=1432-0533|pmc=4776337|pmid=26323991}}</ref>PMID:26323991 <ref name=":8" />PMID:26061751; <ref name=":13" />PMID:29687258
 
|<ref name=":44" />PMID:26061754; <ref name=":15" />PMID:25754088; <ref name=":45" />PMID:28535583 <ref name=":47">{{Cite journal|last=Geisenberger|first=Christoph|last2=Mock|first2=Andreas|last3=Warta|first3=Rolf|last4=Rapp|first4=Carmen|last5=Schwager|first5=Christian|last6=Korshunov|first6=Andrey|last7=Nied|first7=Ann-Katrin|last8=Capper|first8=David|last9=Brors|first9=Benedikt|date=2015-09|title=Molecular profiling of long-term survivors identifies a subgroup of glioblastoma characterized by chromosome 19/20 co-gain|url=https://pubmed.ncbi.nlm.nih.gov/25931051|journal=Acta Neuropathologica|volume=130|issue=3|pages=419–434|doi=10.1007/s00401-015-1427-y|issn=1432-0533|pmid=25931051}}</ref>PMID:25931051; <ref name=":46" />PMID:26091668; <ref name=":0" />PMID:25461780; <ref name=":48">{{Cite journal|last=Louis|first=David N.|last2=Perry|first2=Arie|last3=Reifenberger|first3=Guido|last4=von Deimling|first4=Andreas|last5=Figarella-Branger|first5=Dominique|last6=Cavenee|first6=Webster K.|last7=Ohgaki|first7=Hiroko|last8=Wiestler|first8=Otmar D.|last9=Kleihues|first9=Paul|date=2016-06|title=The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary|url=https://pubmed.ncbi.nlm.nih.gov/27157931|journal=Acta Neuropathologica|volume=131|issue=6|pages=803–820|doi=10.1007/s00401-016-1545-1|issn=1432-0533|pmid=27157931}}</ref>PMID:27157931; <ref name=":14" />PMID:25727226; <ref>{{Cite journal|last=Liu|first=Qun|last2=Liu|first2=Yuexin|last3=Li|first3=Wenliang|last4=Wang|first4=Xiaoguang|last5=Sawaya|first5=Raymond|last6=Lang|first6=Frederick F.|last7=Yung|first7=W. K. Alfred|last8=Chen|first8=Kexin|last9=Fuller|first9=Gregory N.|date=2015-10|title=Genetic, epigenetic, and molecular landscapes of multifocal and multicentric glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/26323991|journal=Acta Neuropathologica|volume=130|issue=4|pages=587–597|doi=10.1007/s00401-015-1470-8|issn=1432-0533|pmc=4776337|pmid=26323991}}</ref>PMID:26323991 <ref name=":8" />PMID:26061751; <ref name=":13" />PMID:29687258
Line 381: Line 381:
 
|'''Loss:''' 4, 9p, 10, 13, 14, 15, 22 , (3, 4q, 19q, 16p, 21q, 5p loss in age <40)<br>
 
|'''Loss:''' 4, 9p, 10, 13, 14, 15, 22 , (3, 4q, 19q, 16p, 21q, 5p loss in age <40)<br>
 
'''Gain:''' 7, 19, 20  (1q, 12p, 11q, 9q, 4, 10p gain in age <40) <br>
 
'''Gain:''' 7, 19, 20  (1q, 12p, 11q, 9q, 4, 10p gain in age <40) <br>
'''Amplification:''' EGFR, MDM4, CDK4, MET  
+
'''Amplification:''' [[EGFR]], [[MDM4]], [[CDK4]], [[MET]]
|'''Loss:''' homozygous CDKN2A/B, PTEN, RB1<br>
+
|'''Loss:''' homozygous [[CDKN2A]]/[[CDKN2B]], [[PTEN]], [[RB1]]<br>
'''Mutation:''' TERT, EGFR, PTEN, NF1, RB1, PIK3CA or PIK3R1, TP53<br>
+
'''Mutation:''' [[TERT]], [[EGFR]], [[PTEN]], [[NF1]], [[RB1]], [[PIK3CA]] or [[PIK3R1]], [[TP53]]<br>
'''Amplification:'''  EGFR, MDM4, MDM2, CDK4, PDGFRA, MET
+
'''Amplification:'''  [[EGFR]], [[MDM4]], [[MDM2]], [[CDK4]], [[PDGFRA]], [[MET]]
 
|Overall poor prognosis.    Gain of 19q, amplification of EGFR, and homozygous loss of CDKN2A are seen primarily in patients over age 40. Co-gain of 19 and 20 may be associated with longer survival.
 
|Overall poor prognosis.    Gain of 19q, amplification of EGFR, and homozygous loss of CDKN2A are seen primarily in patients over age 40. Co-gain of 19 and 20 may be associated with longer survival.
 
|<ref name=":44" />PMID:26061754; <ref name=":15" />PMID:25754088; <ref name=":45" />PMID:28535583 <ref name=":47" />PMID:25931051; <ref name=":46" />PMID:26091668; <ref name=":0" />PMID:25461780; <ref name=":48" />PMID:27157931; <ref name=":14" />PMID:25727226; <ref name=":8" />PMID:26061751
 
|<ref name=":44" />PMID:26061754; <ref name=":15" />PMID:25754088; <ref name=":45" />PMID:28535583 <ref name=":47" />PMID:25931051; <ref name=":46" />PMID:26091668; <ref name=":0" />PMID:25461780; <ref name=":48" />PMID:27157931; <ref name=":14" />PMID:25727226; <ref name=":8" />PMID:26061751
Line 396: Line 396:
 
'''Loss:''' 22/22q- common as sole aberration <br>
 
'''Loss:''' 22/22q- common as sole aberration <br>
 
'''CN-LOH:''' 1p, 14q                                                                                                                                                                                                                                                   
 
'''CN-LOH:''' 1p, 14q                                                                                                                                                                                                                                                   
|'''Loss:''' NF2, CDKN2A, PTEN<br>
+
|'''Loss:''' [[NF2]], [[CDKN2A]], [[PTEN]]<br>
'''Mutation:''' NF2, PI3K, SMO, AKT1, KLF4, TRAF7, TERT, ARID1A
+
'''Mutation:''' [[NF2]], [[PI3K]], [[SMO]], [[AKT1]], [[KLF4]], [[TRAF7]], [[TERT]], [[ARID1A]]
 
|Array findings characteristic of higher grade tumors when histology supports lower grade may suggest increased likelihood of recurrence.  Polysomy,  particularly involving chromosome 5, are seen in angiomatous meningiomas. LOH 1p and/or LOH 1p/14q correlated with anaplastic transformation.
 
|Array findings characteristic of higher grade tumors when histology supports lower grade may suggest increased likelihood of recurrence.  Polysomy,  particularly involving chromosome 5, are seen in angiomatous meningiomas. LOH 1p and/or LOH 1p/14q correlated with anaplastic transformation.
 
|<ref name=":24" />PMID:23528542; <ref name=":49">{{Cite journal|last=Och|first=Waldemar|last2=Szmuda|first2=Tomasz|last3=Sikorska|first3=Beata|last4=Springer|first4=Janusz|last5=Jaskólski|first5=Dariusz|last6=Zakrzewska|first6=Magdalena|last7=Liberski|first7=Paweł P.|date=2016-11-XX|title=Recurrence-associated chromosomal anomalies in meningiomas: Single-institution study and a systematic review with meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/27575681|journal=Neurologia I Neurochirurgia Polska|volume=50|issue=6|pages=439–448|doi=10.1016/j.pjnns.2016.08.003|issn=0028-3843|pmid=27575681}}</ref>PMID:27575681; <ref name=":50">{{Cite journal|last=Lee|first=Yohan|last2=Liu|first2=Jason|last3=Patel|first3=Shilpa|last4=Cloughesy|first4=Timothy|last5=Lai|first5=Albert|last6=Farooqi|first6=Haumith|last7=Seligson|first7=David|last8=Dong|first8=Jun|last9=Liau|first9=Linda|date=2010-07|title=Genomic landscape of meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/20015288|journal=Brain Pathology (Zurich, Switzerland)|volume=20|issue=4|pages=751–762|doi=10.1111/j.1750-3639.2009.00356.x|issn=1750-3639|pmc=3167483|pmid=20015288}}</ref>PMID:20015288 <ref>{{Cite journal|last=Jansen|first=M.|last2=Mohapatra|first2=G.|last3=Betensky|first3=R. A.|last4=Keohane|first4=C.|last5=Louis|first5=D. N.|date=2012-04|title=Gain of chromosome arm 1q in atypical meningioma correlates with shorter progression-free survival|url=https://pubmed.ncbi.nlm.nih.gov/21988727|journal=Neuropathology and Applied Neurobiology|volume=38|issue=2|pages=213–219|doi=10.1111/j.1365-2990.2011.01222.x|issn=1365-2990|pmc=3563294|pmid=21988727}}</ref>PMID:21988727; <ref name=":51">{{Cite journal|last=Gabeau-Lacet|first=Darlene|last2=Engler|first2=David|last3=Gupta|first3=Sumeet|last4=Scangas|first4=George A.|last5=Betensky|first5=Rebecca A.|last6=Barker|first6=Fred G.|last7=Loeffler|first7=Jay S.|last8=Louis|first8=David N.|last9=Mohapatra|first9=Gayatry|date=2009-10|title=Genomic profiling of atypical meningiomas associates gain of 1q with poor clinical outcome|url=https://pubmed.ncbi.nlm.nih.gov/19918127|journal=Journal of Neuropathology and Experimental Neurology|volume=68|issue=10|pages=1155–1165|doi=10.1097/NEN.0b013e3181ba3952|issn=1554-6578|pmc=2847373|pmid=19918127}}</ref>PMID19918127; <ref name=":52">{{Cite journal|last=Abedalthagafi|first=Malak S.|last2=Merrill|first2=Parker H.|last3=Bi|first3=Wenya Linda|last4=Jones|first4=Robert T.|last5=Listewnik|first5=Marc L.|last6=Ramkissoon|first6=Shakti H.|last7=Thorner|first7=Aaron R.|last8=Dunn|first8=Ian F.|last9=Beroukhim|first9=Rameen|date=2014-11-15|title=Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5|url=https://pubmed.ncbi.nlm.nih.gov/25347344|journal=Oncotarget|volume=5|issue=21|pages=10596–10606|doi=10.18632/oncotarget.2517|issn=1949-2553|pmc=4279396|pmid=25347344}}</ref>PMID:25347344 <ref name=":53">{{Cite journal|last=Brastianos|first=Priscilla K.|last2=Horowitz|first2=Peleg M.|last3=Santagata|first3=Sandro|last4=Jones|first4=Robert T.|last5=McKenna|first5=Aaron|last6=Getz|first6=Gad|last7=Ligon|first7=Keith L.|last8=Palescandolo|first8=Emanuele|last9=Van Hummelen|first9=Paul|date=2013-03|title=Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations|url=https://pubmed.ncbi.nlm.nih.gov/23334667|journal=Nature Genetics|volume=45|issue=3|pages=285–289|doi=10.1038/ng.2526|issn=1546-1718|pmc=3739288|pmid=23334667}}</ref>PMID:23334667; <ref name=":54">{{Cite journal|last=Abedalthagafi|first=Malak S.|last2=Bi|first2=Wenya Linda|last3=Merrill|first3=Parker H.|last4=Gibson|first4=William J.|last5=Rose|first5=Matthew F.|last6=Du|first6=Ziming|last7=Francis|first7=Joshua M.|last8=Du|first8=Rose|last9=Dunn|first9=Ian F.|date=2015-06|title=ARID1A and TERT promoter mutations in dedifferentiated meningioma|url=https://pubmed.ncbi.nlm.nih.gov/25963524|journal=Cancer Genetics|volume=208|issue=6|pages=345–350|doi=10.1016/j.cancergen.2015.03.005|issn=2210-7762|pmc=4882906|pmid=25963524}}</ref>PMID:25963524; <ref name=":55">{{Cite journal|last=Abedalthagafi|first=Malak|last2=Bi|first2=Wenya Linda|last3=Aizer|first3=Ayal A.|last4=Merrill|first4=Parker H.|last5=Brewster|first5=Ryan|last6=Agarwalla|first6=Pankaj K.|last7=Listewnik|first7=Marc L.|last8=Dias-Santagata|first8=Dora|last9=Thorner|first9=Aaron R.|date=2016-05|title=Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma|url=https://pubmed.ncbi.nlm.nih.gov/26826201|journal=Neuro-Oncology|volume=18|issue=5|pages=649–655|doi=10.1093/neuonc/nov316|issn=1523-5866|pmc=4827048|pmid=26826201}}</ref>PMID:26826201 <ref name=":56">{{Cite journal|last=Harmancı|first=Akdes Serin|last2=Youngblood|first2=Mark W.|last3=Clark|first3=Victoria E.|last4=Coşkun|first4=Süleyman|last5=Henegariu|first5=Octavian|last6=Duran|first6=Daniel|last7=Erson-Omay|first7=E. Zeynep|last8=Kaulen|first8=Leon D.|last9=Lee|first9=Tong Ihn|date=2017-02-14|title=Integrated genomic analyses of de novo pathways underlying atypical meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/28195122|journal=Nature Communications|volume=8|pages=14433|doi=10.1038/ncomms14433|issn=2041-1723|pmc=5316884|pmid=28195122}}</ref>PMID:28195122; <ref name=":57">{{Cite journal|last=Aizer|first=Ayal A.|last2=Abedalthagafi|first2=Malak|last3=Bi|first3=Wenya Linda|last4=Horvath|first4=Margaret C.|last5=Arvold|first5=Nils D.|last6=Al-Mefty|first6=Ossama|last7=Lee|first7=Eudocia Q.|last8=Nayak|first8=Lakshmi|last9=Rinne|first9=Mikael L.|date=2016-02|title=A prognostic cytogenetic scoring system to guide the adjuvant management of patients with atypical meningioma|url=https://pubmed.ncbi.nlm.nih.gov/26323607|journal=Neuro-Oncology|volume=18|issue=2|pages=269–274|doi=10.1093/neuonc/nov177|issn=1523-5866|pmc=4724184|pmid=26323607}}</ref>PMID:26323607;  
 
|<ref name=":24" />PMID:23528542; <ref name=":49">{{Cite journal|last=Och|first=Waldemar|last2=Szmuda|first2=Tomasz|last3=Sikorska|first3=Beata|last4=Springer|first4=Janusz|last5=Jaskólski|first5=Dariusz|last6=Zakrzewska|first6=Magdalena|last7=Liberski|first7=Paweł P.|date=2016-11-XX|title=Recurrence-associated chromosomal anomalies in meningiomas: Single-institution study and a systematic review with meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/27575681|journal=Neurologia I Neurochirurgia Polska|volume=50|issue=6|pages=439–448|doi=10.1016/j.pjnns.2016.08.003|issn=0028-3843|pmid=27575681}}</ref>PMID:27575681; <ref name=":50">{{Cite journal|last=Lee|first=Yohan|last2=Liu|first2=Jason|last3=Patel|first3=Shilpa|last4=Cloughesy|first4=Timothy|last5=Lai|first5=Albert|last6=Farooqi|first6=Haumith|last7=Seligson|first7=David|last8=Dong|first8=Jun|last9=Liau|first9=Linda|date=2010-07|title=Genomic landscape of meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/20015288|journal=Brain Pathology (Zurich, Switzerland)|volume=20|issue=4|pages=751–762|doi=10.1111/j.1750-3639.2009.00356.x|issn=1750-3639|pmc=3167483|pmid=20015288}}</ref>PMID:20015288 <ref>{{Cite journal|last=Jansen|first=M.|last2=Mohapatra|first2=G.|last3=Betensky|first3=R. A.|last4=Keohane|first4=C.|last5=Louis|first5=D. N.|date=2012-04|title=Gain of chromosome arm 1q in atypical meningioma correlates with shorter progression-free survival|url=https://pubmed.ncbi.nlm.nih.gov/21988727|journal=Neuropathology and Applied Neurobiology|volume=38|issue=2|pages=213–219|doi=10.1111/j.1365-2990.2011.01222.x|issn=1365-2990|pmc=3563294|pmid=21988727}}</ref>PMID:21988727; <ref name=":51">{{Cite journal|last=Gabeau-Lacet|first=Darlene|last2=Engler|first2=David|last3=Gupta|first3=Sumeet|last4=Scangas|first4=George A.|last5=Betensky|first5=Rebecca A.|last6=Barker|first6=Fred G.|last7=Loeffler|first7=Jay S.|last8=Louis|first8=David N.|last9=Mohapatra|first9=Gayatry|date=2009-10|title=Genomic profiling of atypical meningiomas associates gain of 1q with poor clinical outcome|url=https://pubmed.ncbi.nlm.nih.gov/19918127|journal=Journal of Neuropathology and Experimental Neurology|volume=68|issue=10|pages=1155–1165|doi=10.1097/NEN.0b013e3181ba3952|issn=1554-6578|pmc=2847373|pmid=19918127}}</ref>PMID19918127; <ref name=":52">{{Cite journal|last=Abedalthagafi|first=Malak S.|last2=Merrill|first2=Parker H.|last3=Bi|first3=Wenya Linda|last4=Jones|first4=Robert T.|last5=Listewnik|first5=Marc L.|last6=Ramkissoon|first6=Shakti H.|last7=Thorner|first7=Aaron R.|last8=Dunn|first8=Ian F.|last9=Beroukhim|first9=Rameen|date=2014-11-15|title=Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5|url=https://pubmed.ncbi.nlm.nih.gov/25347344|journal=Oncotarget|volume=5|issue=21|pages=10596–10606|doi=10.18632/oncotarget.2517|issn=1949-2553|pmc=4279396|pmid=25347344}}</ref>PMID:25347344 <ref name=":53">{{Cite journal|last=Brastianos|first=Priscilla K.|last2=Horowitz|first2=Peleg M.|last3=Santagata|first3=Sandro|last4=Jones|first4=Robert T.|last5=McKenna|first5=Aaron|last6=Getz|first6=Gad|last7=Ligon|first7=Keith L.|last8=Palescandolo|first8=Emanuele|last9=Van Hummelen|first9=Paul|date=2013-03|title=Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations|url=https://pubmed.ncbi.nlm.nih.gov/23334667|journal=Nature Genetics|volume=45|issue=3|pages=285–289|doi=10.1038/ng.2526|issn=1546-1718|pmc=3739288|pmid=23334667}}</ref>PMID:23334667; <ref name=":54">{{Cite journal|last=Abedalthagafi|first=Malak S.|last2=Bi|first2=Wenya Linda|last3=Merrill|first3=Parker H.|last4=Gibson|first4=William J.|last5=Rose|first5=Matthew F.|last6=Du|first6=Ziming|last7=Francis|first7=Joshua M.|last8=Du|first8=Rose|last9=Dunn|first9=Ian F.|date=2015-06|title=ARID1A and TERT promoter mutations in dedifferentiated meningioma|url=https://pubmed.ncbi.nlm.nih.gov/25963524|journal=Cancer Genetics|volume=208|issue=6|pages=345–350|doi=10.1016/j.cancergen.2015.03.005|issn=2210-7762|pmc=4882906|pmid=25963524}}</ref>PMID:25963524; <ref name=":55">{{Cite journal|last=Abedalthagafi|first=Malak|last2=Bi|first2=Wenya Linda|last3=Aizer|first3=Ayal A.|last4=Merrill|first4=Parker H.|last5=Brewster|first5=Ryan|last6=Agarwalla|first6=Pankaj K.|last7=Listewnik|first7=Marc L.|last8=Dias-Santagata|first8=Dora|last9=Thorner|first9=Aaron R.|date=2016-05|title=Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma|url=https://pubmed.ncbi.nlm.nih.gov/26826201|journal=Neuro-Oncology|volume=18|issue=5|pages=649–655|doi=10.1093/neuonc/nov316|issn=1523-5866|pmc=4827048|pmid=26826201}}</ref>PMID:26826201 <ref name=":56">{{Cite journal|last=Harmancı|first=Akdes Serin|last2=Youngblood|first2=Mark W.|last3=Clark|first3=Victoria E.|last4=Coşkun|first4=Süleyman|last5=Henegariu|first5=Octavian|last6=Duran|first6=Daniel|last7=Erson-Omay|first7=E. Zeynep|last8=Kaulen|first8=Leon D.|last9=Lee|first9=Tong Ihn|date=2017-02-14|title=Integrated genomic analyses of de novo pathways underlying atypical meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/28195122|journal=Nature Communications|volume=8|pages=14433|doi=10.1038/ncomms14433|issn=2041-1723|pmc=5316884|pmid=28195122}}</ref>PMID:28195122; <ref name=":57">{{Cite journal|last=Aizer|first=Ayal A.|last2=Abedalthagafi|first2=Malak|last3=Bi|first3=Wenya Linda|last4=Horvath|first4=Margaret C.|last5=Arvold|first5=Nils D.|last6=Al-Mefty|first6=Ossama|last7=Lee|first7=Eudocia Q.|last8=Nayak|first8=Lakshmi|last9=Rinne|first9=Mikael L.|date=2016-02|title=A prognostic cytogenetic scoring system to guide the adjuvant management of patients with atypical meningioma|url=https://pubmed.ncbi.nlm.nih.gov/26323607|journal=Neuro-Oncology|volume=18|issue=2|pages=269–274|doi=10.1093/neuonc/nov177|issn=1523-5866|pmc=4724184|pmid=26323607}}</ref>PMID:26323607;  
PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381;  
+
<ref name=":58">{{Cite journal|last=Büschges|first=Rainer|last2=Ichimura|first2=Koichi|last3=Weber|first3=Ruthild G.|last4=Reifenberger|first4=Guido|last5=Collins|first5=V. Peter|date=2002-04|title=Allelic gain and amplification on the long arm of chromosome 17 in anaplastic meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/11958368|journal=Brain Pathology (Zurich, Switzerland)|volume=12|issue=2|pages=145–153|doi=10.1111/j.1750-3639.2002.tb00429.x|issn=1015-6305|pmid=11958368}}</ref>PMID:11958368; <ref name=":59">{{Cite journal|last=Domingues|first=Patrícia|last2=González-Tablas|first2=María|last3=Otero|first3=Álvaro|last4=Pascual|first4=Daniel|last5=Ruiz|first5=Laura|last6=Miranda|first6=David|last7=Sousa|first7=Pablo|last8=Gonçalves|first8=Jesús María|last9=Lopes|first9=María Celeste|date=2015-05-10|title=Genetic/molecular alterations of meningiomas and the signaling pathways targeted|url=https://pubmed.ncbi.nlm.nih.gov/25965831|journal=Oncotarget|volume=6|issue=13|pages=10671–10688|doi=10.18632/oncotarget.3870|issn=1949-2553|pmc=4484411|pmid=25965831}}</ref>PMID:25965831; <ref name=":60">{{Cite journal|last=Domingues|first=Patrícia Henriques|last2=Sousa|first2=Pablo|last3=Otero|first3=Álvaro|last4=Gonçalves|first4=Jesus Maria|last5=Ruiz|first5=Laura|last6=de Oliveira|first6=Catarina|last7=Lopes|first7=Maria Celeste|last8=Orfao|first8=Alberto|last9=Tabernero|first9=Maria Dolores|date=2014-05|title=Proposal for a new risk stratification classification for meningioma based on patient age, WHO tumor grade, size, localization, and karyotype|url=https://pubmed.ncbi.nlm.nih.gov/24536048|journal=Neuro-Oncology|volume=16|issue=5|pages=735–747|doi=10.1093/neuonc/not325|issn=1523-5866|pmc=3984558|pmid=24536048}}</ref>PMID:24536048; <ref name=":61">{{Cite journal|last=Linsler|first=Stefan|last2=Kraemer|first2=Dennis|last3=Driess|first3=Christina|last4=Oertel|first4=Joachim|last5=Kammers|first5=Kai|last6=Rahnenführer|first6=Jörg|last7=Ketter|first7=Ralf|last8=Urbschat|first8=Steffi|date=2014|title=Molecular biological determinations of meningioma progression and recurrence|url=https://pubmed.ncbi.nlm.nih.gov/24722350|journal=PloS One|volume=9|issue=4|pages=e94987|doi=10.1371/journal.pone.0094987|issn=1932-6203|pmc=3983248|pmid=24722350}}</ref>PMID:24722350 <ref name=":62">{{Cite journal|last=Arslantas|first=Ali|last2=Artan|first2=Sevilhan|last3=Oner|first3=Ulkü|last4=Durmaz|first4=Ramazan|last5=Müslümanoglu|first5=Hamza|last6=Atasoy|first6=Metin Ant|last7=Başaran|first7=Nurettin|last8=Tel|first8=Eşref|date=2003-01|title=Detection of chromosomal imbalances in spinal meningiomas by comparative genomic hybridization|url=https://pubmed.ncbi.nlm.nih.gov/12568317|journal=Neurologia Medico-Chirurgica|volume=43|issue=1|pages=12–18; discussion 19|doi=10.2176/nmc.43.12|issn=0470-8105|pmid=12568317}}</ref>PMID:12568317; <ref name=":63">{{Cite journal|last=Bi|first=Wenya Linda|last2=Abedalthagafi|first2=Malak|last3=Horowitz|first3=Peleg|last4=Agarwalla|first4=Pankaj K.|last5=Mei|first5=Yu|last6=Aizer|first6=Ayal A.|last7=Brewster|first7=Ryan|last8=Dunn|first8=Gavin P.|last9=Al-Mefty|first9=Ossama|date=2016-09|title=Genomic landscape of intracranial meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/26771848|journal=Journal of Neurosurgery|volume=125|issue=3|pages=525–535|doi=10.3171/2015.6.JNS15591|issn=1933-0693|pmid=26771848}}</ref>PMID:26771848; <ref name=":64">{{Cite journal|last=Bi|first=Wenya Linda|last2=Mei|first2=Yu|last3=Agarwalla|first3=Pankaj K.|last4=Beroukhim|first4=Rameen|last5=Dunn|first5=Ian F.|date=2016-04|title=Genomic and Epigenomic Landscape in Meningioma|url=https://pubmed.ncbi.nlm.nih.gov/27012381|journal=Neurosurgery Clinics of North America|volume=27|issue=2|pages=167–179|doi=10.1016/j.nec.2015.11.009|issn=1558-1349|pmid=27012381}}</ref>PMID:27012381;  
PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:17225936
+
<ref name=":65">{{Cite journal|last=Och|first=Waldemar|last2=Szmuda|first2=Tomasz|last3=Kulbacki|first3=Kamil|last4=Witek|first4=Krzysztof|last5=Sikorska|first5=Beata|last6=Zakrzewska|first6=Magdalena|last7=Springer|first7=Janusz|last8=Reszeć|first8=Joanna|last9=Parda|first9=Agnieszka|date=2016-11-XX|title=The correlation of clinical and chromosomal alterations of benign meningiomas and their recurrences|url=https://pubmed.ncbi.nlm.nih.gov/27480481|journal=Neurologia I Neurochirurgia Polska|volume=50|issue=6|pages=395–402|doi=10.1016/j.pjnns.2016.07.001|issn=0028-3843|pmid=27480481}}</ref>PMID:27480481; <ref name=":66">{{Cite journal|last=Yuzawa|first=Sayaka|last2=Nishihara|first2=Hiroshi|last3=Tanaka|first3=Shinya|date=2016-10|title=Genetic landscape of meningioma|url=https://pubmed.ncbi.nlm.nih.gov/27624470|journal=Brain Tumor Pathology|volume=33|issue=4|pages=237–247|doi=10.1007/s10014-016-0271-7|issn=1861-387X|pmid=27624470}}</ref>PMID:27624470; <ref name=":67">{{Cite journal|last=Bi|first=Wenya Linda|last2=Zhang|first2=Michael|last3=Wu|first3=Winona W.|last4=Mei|first4=Yu|last5=Dunn|first5=Ian F.|date=2016|title=Meningioma Genomics: Diagnostic, Prognostic, and Therapeutic Applications|url=https://pubmed.ncbi.nlm.nih.gov/27458586|journal=Frontiers in Surgery|volume=3|pages=40|doi=10.3389/fsurg.2016.00040|issn=2296-875X|pmc=4933705|pmid=27458586}}</ref>PMID:27458586; <ref name=":68">{{Cite journal|last=Ketter|first=Ralf|last2=Kim|first2=Yoo-Jin|last3=Storck|first3=Simone|last4=Rahnenführer|first4=Jörg|last5=Romeike|first5=Bernd F. M.|last6=Steudel|first6=Wolf-Ingo|last7=Zang|first7=Klaus D.|last8=Henn|first8=Wolfram|date=2007-06|title=Hyperdiploidy defines a distinct cytogenetic entity of meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/17225936|journal=Journal of Neuro-Oncology|volume=83|issue=2|pages=213–221|doi=10.1007/s11060-006-9318-7|issn=0167-594X|pmid=17225936}}</ref>PMID:17225936
 
|-
 
|-
 
|
 
|
Line 407: Line 407:
 
|'''Gain:''' 1q, 9q, 12q, 15q, 17q, 20q<br>
 
|'''Gain:''' 1q, 9q, 12q, 15q, 17q, 20q<br>
 
'''Loss:''' 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p, 18/18q, 19q, 22/loss 22q   
 
'''Loss:''' 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p, 18/18q, 19q, 22/loss 22q   
|'''Loss:''' NF2, CDKN2A, PTEN<br>
+
|'''Loss:''' [[NF2]], [[CDKN2A]], [[PTEN]]<br>
'''Mutation:''' NF2, CDKN2A/C, SMARCE1, SMARCB1, TERT  
+
'''Mutation:''' [[NF2]], [[CDKN2A]]/[[CDKN2C]], [[SMARCE1]], [[SMARCB1]], [[TERT]]
 
|Gain of 1q  is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
 
|Gain of 1q  is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|<ref name=":24" />PMID:23528542; <ref name=":49" />PMID:27575681; <ref name=":50" />PMID:20015288 <ref name=":50" />PMID:21988727; <ref name=":51" />PMID19918127; <ref name=":52" />PMID:25347344 <ref name=":53" />PMID:23334667; <ref name=":54" />PMID:25963524; <ref name=":55" />PMID:26826201 <ref name=":56" />PMID:28195122; <ref name=":57" />PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:17225936
+
|<ref name=":24" />PMID:23528542; <ref name=":49" />PMID:27575681; <ref name=":50" />PMID:20015288 <ref name=":50" />PMID:21988727; <ref name=":51" />PMID19918127; <ref name=":52" />PMID:25347344 <ref name=":53" />PMID:23334667; <ref name=":54" />PMID:25963524; <ref name=":55" />PMID:26826201 <ref name=":56" />PMID:28195122; <ref name=":57" />PMID:26323607; <ref name=":58" />PMID:11958368; <ref name=":59" />PMID:25965831; <ref name=":60" />PMID:24536048; <ref name=":61" />PMID:24722350 <ref name=":62" />PMID:12568317; <ref name=":63" />PMID:26771848; <ref name=":64" />PMID:27012381; <ref name=":65" />PMID:27480481; <ref name=":66" />PMID:27624470; <ref name=":67" />PMID:27458586; <ref name=":68" />PMID:17225936
 
|-
 
|-
 
|
 
|
Line 416: Line 416:
 
|'''Gain:''' 1q, 9q, 12q, 15q, 17q23, 20q <br>
 
|'''Gain:''' 1q, 9q, 12q, 15q, 17q23, 20q <br>
 
'''Loss:''' 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p,18/18q,19q,22/loss 22q
 
'''Loss:''' 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p,18/18q,19q,22/loss 22q
|'''Loss:''' NF2, CDKN2A, PTEN<br>
+
|'''Loss:''' [[NF2]], [[CDKN2A]], [[PTEN]]<br>
'''Mutation:''' NF2, CDKN2A/C, TERT<br>
+
'''Mutation:''' [[NF2]], [[CDKN2A]]/[[CDKN2C]], [[TERT]]<br>
 
'''Amplification:''' RPS6K in higher grades, 17q23
 
'''Amplification:''' RPS6K in higher grades, 17q23
 
|Loss of 9p and amplification or gain of 17q23  are more frequent than other abnormalities.  Gain of 1q  is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
 
|Loss of 9p and amplification or gain of 17q23  are more frequent than other abnormalities.  Gain of 1q  is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|<ref name=":24" />PMID:23528542; <ref name=":49" />PMID:27575681; <ref name=":50" />PMID:20015288 <ref name=":50" />PMID:21988727; <ref name=":51" />PMID19918127; <ref name=":52" />PMID:25347344 <ref name=":53" />PMID:23334667; <ref name=":54" />PMID:25963524; <ref name=":55" />PMID:26826201 <ref name=":56" />PMID:28195122; <ref name=":57" />PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:17225936
+
|<ref name=":24" />PMID:23528542; <ref name=":49" />PMID:27575681; <ref name=":50" />PMID:20015288 <ref name=":50" />PMID:21988727; <ref name=":51" />PMID19918127; <ref name=":52" />PMID:25347344 <ref name=":53" />PMID:23334667; <ref name=":54" />PMID:25963524; <ref name=":55" />PMID:26826201 <ref name=":56" />PMID:28195122; <ref name=":57" />PMID:26323607; <ref name=":58" />PMID:11958368; <ref name=":59" />PMID:25965831; <ref name=":60" />PMID:24536048; <ref name=":61" />PMID:24722350 <ref name=":62" />PMID:12568317; <ref name=":63" />PMID:26771848; <ref name=":64" />PMID:27012381; <ref name=":65" />PMID:27480481; <ref name=":66" />PMID:27624470; <ref name=":67" />PMID:27458586; <ref name=":68" />PMID:17225936
 
|-
 
|-
 
|'''EPENDYMOMA'''<br>
 
|'''EPENDYMOMA'''<br>
Line 426: Line 426:
 
|
 
|
 
|'''DNA-based methylation classifies''' tumors across anatomical sites --- intracranial (posterior fossa or supratentorial) or spinal --- and across tumor grades and age groups
 
|'''DNA-based methylation classifies''' tumors across anatomical sites --- intracranial (posterior fossa or supratentorial) or spinal --- and across tumor grades and age groups
|'''Fusion:''' YAP1 fusions (supratentorial tumors)<br>
+
|'''Fusion:''' [[YAP1]] fusions (supratentorial tumors)<br>
'''Mutation:''' NF2 (spinal tumors)<br>
+
'''Mutation:''' [[NF2]] (spinal tumors)<br>
'''Loss:''' CDKN2A  
+
'''Loss:''' [[CDKN2A]]
 
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is not reliable; Prognostic differences among tumors suggested on the basis of methylation analysis
 
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is not reliable; Prognostic differences among tumors suggested on the basis of methylation analysis
 
|WHO CNS Tumors (2016)<br>
 
|WHO CNS Tumors (2016)<br>
Line 437: Line 437:
 
|'''Gain:''' 1q, 5, 7, 9, 11, 18, 20<br>
 
|'''Gain:''' 1q, 5, 7, 9, 11, 18, 20<br>
 
'''Loss:''' 1p, 3, -6/6q, 9p, 13q, 17, 22
 
'''Loss:''' 1p, 3, -6/6q, 9p, 13q, 17, 22
|'''Loss:''' CDKN2A/CDKN2B (rare); NF2<br>
+
|'''Loss:''' [[CDKN2A]]/[[CDKN2B]] (rare); [[NF2]]<br>
'''Mutation:''' NF2 (esp. in spinal tumors)     
+
'''Mutation:''' [[NF2]] (esp. in spinal tumors)     
 
|Usually intracranial, spinal tumors (myxopapillary) are rare; 80% of pediatric tumors develop in posterior fossa (PF); Supratentorial tumors preferentially show monosomy 9; 1q gain is unfavorable prognostic indicator in PF tumors; spinal tumors associated with NF2 mutation (germline)
 
|Usually intracranial, spinal tumors (myxopapillary) are rare; 80% of pediatric tumors develop in posterior fossa (PF); Supratentorial tumors preferentially show monosomy 9; 1q gain is unfavorable prognostic indicator in PF tumors; spinal tumors associated with NF2 mutation (germline)
 
|<ref name=":16" />PMID:25965575; <ref name=":21" />PMID:22338015; <ref name=":22" />PMID:28371821
 
|<ref name=":16" />PMID:25965575; <ref name=":21" />PMID:22338015; <ref name=":22" />PMID:28371821
Line 455: Line 455:
 
|Myxopapillary ependymoma, WHO grade I  (spinal)
 
|Myxopapillary ependymoma, WHO grade I  (spinal)
 
|'''Aneuploidy:''' multiple chromosomes lost and gained
 
|'''Aneuploidy:''' multiple chromosomes lost and gained
|'''Mutation:''' NF2 (including germline) in spinal tumors
+
|'''Mutation:''' [[NF2]] (including germline) in spinal tumors
 
|More common in adults
 
|More common in adults
 
|<ref name=":16" />PMID:25965575; <ref name=":24" />PMCID:3991130; <ref name=":25" />PMID:20425037 <ref name=":26" />PMID:25957288; <ref name=":19" />PMID:22516549
 
|<ref name=":16" />PMID:25965575; <ref name=":24" />PMCID:3991130; <ref name=":25" />PMID:20425037 <ref name=":26" />PMID:25957288; <ref name=":19" />PMID:22516549
Line 465: Line 465:
 
'''Aneuploidy:''' multiple chromosomes lost and gained<br>
 
'''Aneuploidy:''' multiple chromosomes lost and gained<br>
 
'''Chromothripsis:''' chromosome 11 (70% of supratentorial tumors)
 
'''Chromothripsis:''' chromosome 11 (70% of supratentorial tumors)
|'''Fusion:''' c11orf95-RELA (supratentorial tumors)<br>
+
|'''Fusion:''' [[C11ORF95]]-[[RELA]] (supratentorial tumors)<br>
'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)
+
'''Loss:''' [[CDKN2A]]/[[CDKN2B]] (may help distinguish from other supratentorial ependymomas)
 
|Unfavorable prognosis
 
|Unfavorable prognosis
 
|<ref name=":16" />PMID:25965575; <ref name=":27" />PMID:24553141; <ref name=":22" />PMID:28371821
 
|<ref name=":16" />PMID:25965575; <ref name=":27" />PMID:24553141; <ref name=":22" />PMID:28371821
Line 473: Line 473:
 
|Anaplastic ependymoma (no WHO grade assigned; intracranial or spinal)
 
|Anaplastic ependymoma (no WHO grade assigned; intracranial or spinal)
 
|'''Epigenetic studies''' suggest range of abnormalities: balanced or unbalanced genomes
 
|'''Epigenetic studies''' suggest range of abnormalities: balanced or unbalanced genomes
|'''Mutation:''' NF2 (including germline) in spinal tumors<br>
+
|'''Mutation:''' [[NF2]] (including germline) in spinal tumors<br>
'''Fusion:''' RELA fusions, YAP1 fusions can correspond to anaplastic histology
+
'''Fusion:''' [[RELA]] fusions, [[YAP1]] fusions can correspond to anaplastic histology
 
|Mostly intracranial tumors, rarely in spinal cord
 
|Mostly intracranial tumors, rarely in spinal cord
|<ref name=":16" />PMID: 25965575; PMID:27022130
+
|<ref name=":16" />PMID: 25965575; <ref>{{Cite journal|last=Wu|first=Jing|last2=Armstrong|first2=Terri S.|last3=Gilbert|first3=Mark R.|date=2016-07|title=Biology and management of ependymomas|url=https://pubmed.ncbi.nlm.nih.gov/27022130|journal=Neuro-Oncology|volume=18|issue=7|pages=902–913|doi=10.1093/neuonc/now016|issn=1523-5866|pmc=4896548|pmid=27022130}}</ref>PMID:27022130
 
|}
 
|}
 +
 +
==Reference==
 +
1. Neill SG, Hauenstein J, Li MM, Liu YJ, Luo M, Saxe DF, Ligon AH. (2020-05). Copy number assessment in the genomic analysis of CNS neoplasia: An evidence-based review from the cancer genomics consortium (CGC) working group on primary CNS tumors. Cancer Genetics. 243: 19–47. PMID 32203924.
 
<references />
 
<references />

Latest revision as of 17:05, 20 April 2021

Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray

Table 1: Pediatric CNS Tumors. CGC CNS Workgroup 2015-2018. Table derived from Neill et al., 2020 [PMID: 32203924] with permission from Cancer Genetics.

TUMOR SUBTYPES BROAD ABERRATIONS (>10Mb) FOCAL ABERRATIONS (<10Mb) CLINICAL FEATURES REFERENCES
GLIOMAS WHO CNS Tumors (2016)
Low grade glioma, WHO grade I Pilocytic astrocytoma/pilomyxoid astrocytoma Some tumors show polysomy 7; other polysomies more common in adult PA Fusions: KIAA1549-BRAF fusion (via 3'BRAF duplication), other BRAF partners reported; NTRK fusions (rare); FGFR1 fusions (rare)

Mutations: BRAF V600E (particularly extra-cerebellar tumors); FGFR1 (midline PA); NF1 (esp. germline), other MAPK pathway mutations
Loss: NF1 in optic pathway PA

Classic PA are cerebellar (most commonly associated with BRAF duplication); PA in patients with germline NF1 alterations often develop as optic gliomas;Surgical resection can be curative; PMA generally more aggressive than PA; BRAF fusions and BRAF mutations generally are mutually exclusive [1]PMID:19016743; [2]PMCID:2761618; [3]PMID:18716556 [4]PMID:25461780 [5]PMID:25664944; [6]PMID:26378811 [7]PMCID:3429698; [8]PMID:23817572; [9]PMID:23583981 [10]PMID:18974108; [11]PMID:23278243; [12]PMID:21274720
Angiocentric glioma Aberrations involving 6q24-q25 Fusions: MYB-QKI rearrangement/deletion (classic histology)

Rearrangement: MYB alone (atypical histology)
Amplification: MYB (atypical histology)

Generally indolent tumors; surgical resection can be curative [13]PMID:26829751; [14]PMID:23633565; [15]PMID:26778052 [9]PMID:23583981
Ganglioglioma Only 30% are abnormal by karyotype

Gain: polysomy 7

Mutations: BRAF V600E in 20-60% of cases (can be concurrent with CDKN2A homozygous deletion)

Fusions: KIAA1549-BRAF

Generally indolent tumors for which surgical resection can be curative [4]PMID:25461780; [9]PMID:23583981; [16]PMID:11996800 [17]PMID:23609006; [18]PMID:29880043
Low grade glioma, WHO grade II Diffuse astrocytoma No diagnostic aberrations Rearrangement: MYBL1 truncating rearrangements and tandem duplication, FGFR1 rearrangements

Mutation: FGFR1

Anaplastic features associated with decreased progression free survival [5]PMID:25664944; [14]PMID:23633565; [19]PMID:26061751 [20]PMID:26824661; [21]PMID:26004297; [4]PMID:25461780 [9]PMID:23583981
Pleomorphic xanthoastrocytoma (PXA) Polysomy 3, polysomy 7 observed

Loss: monosomy 9 / 9p deletion

Mutations: BRAF V600E in ~60%; TP53 (5%)

Loss: CDKN2A/CDKN2B

[4]PMID:25461780; [9]PMID:23583981; [22]PMID:16909113; [23]PMID:12484572
Anaplastic astrocytoma, WHO grade III IDH-mutant or IDH-wild type Gain: 1q, 7/7q, 8q, 10p

Loss: 6q, 9p, 10q, -11/11p, 12q, 13q, 14q, 17p, 19q, -22/22q

IDH-wild type astrocytomas can be more clinically aggressive than those that are IDH-mutant [24]PMCID:1891902; [21]PMID:26004297; [4]PMID:25461780; [25]PMID:24140581; [26]PMCID:5323185; [27]PMID:27230974 [28]PMID:27196377; [19]PMID:26061751; [29]PMID:25962792; [30]PMID:29687258
Other Anaplastic PXA, WHO grade III / Ganglioglioma, WHO Grade III Loss: monosomy 9 / 9p deletion, but no diagnostic findings Mutation: BRAF V600E less common here than in PXA, grade II

Loss: CDKN2A/CDKN2B

CDKN2A/CDKN2B loss may correlate with anaplastic histology WHO CNS Tumors (2016)

[31]PMID:25318587; [32]PMID:23096133; [12]PMID:21274720

Glioblastoma, WHO grade IV IDH-mutant Gain: 1q, 2q, 3q, 7, 16p, 17q, 21q

Loss: 6q, 8q, 9p, 9q, 10q, 13q, 17p, 22q
Chromothripsis: observed

Loss: PTEN, RB1, TP53, CDKN2A/CDKN2B/CDKN2C

Fusions: FGFR-TACC; NTRK fusions
Amplification: PDGFRA, MYCN, MET, CDK4, CDK6 (EGFR, MDM2 amp rare)
Mutations: IDH1/IDH2 (rare in pediatric GBM), KRAS, RAS pathway, RB1 pathway, TP53 pathway, FGFR1, H3.3/H3.1-K27M (exclusively in diffuse midline tumors), PDGFRA, NF1, SETD2, ATRX, DAXX

Overall poor prognosis [33]PMID:25752754; [34]PMID:25727226; [35]PMID:26328271; [36]PMID:22837387; [37]PMID:25754088; [4]PMID:25461780; [24]PMCID:1891902; [38]PMID:23417712; [26]PMCID:5323185; [30]PMID:29687258; [39]PMID:20479398; [40]PMID:24959384
Diffuse midline glioma, H3 K27M mutant Gain: 1q, 2, 7, 8

Loss: 10q
Chromothripsis: 2p

Three molecular subgroups:

MYCN subgroup: no mutations but chromothripsis leading to amp of MYCN and ID2
Silent subgroup: no recurrent copy # changes, few mutations
H3-K27M subgroup: MYC, PDGFRA gains/amp; RB1, TP53 deletions
Mutation: ACVR1, H3F3A, HIST1H3B, TP53 Loss: CDKN2A, PTEN, RB1, TP53
Amplification: MYC, MYCN, ID2, PDGFRA

Overall poor prognosis regardless of subgroup [41]PMCID:3280796; [42]PMID:24705254; [43]PMID:24705252 [44]PMID:27048880; [45]PMID:26175967; [46]PMID:24705251; [47]PMID:28966033
EPENDYMOMA

(in order of increasing WHO grade)

DNA-based methylation classifies tumors across anatomical sites (posterior fossa, supratentorial, spinal), grades and age groups Fusion: YAP1 fusions (supratentorial tumors)

Mutation: NF2 (spinal tumors)
Loss: CDKN2A

Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is of questionable relevance; Prognostic differences among tumors suggested on the basis of methylation analysis WHO CNS Tumors (2016)

[48]PMID:25965575; [49]PMID:21627842; [50]PMID:24939246; [51]PMID:22516549

Classic ependymoma (no WHO grade assigned) Gain: 1q, 5, 7, 9, 11, 18, 20

Loss: 1p, 3, -6/6q, 9p, 13q, 17, 22

Usually intracranial, spinal tumors (myxopapillary) are rare; 80% of pediatric tumors develop in posterior fossa (PF); Supratentorial tumors preferentially show monosomy 9; 1q gain is unfavorable prognostic indicator in PF tumors; spinal tumors associated with NF2 (germline); children have worse outcomes than adults [48]PMID:25965575; [52]PMID:22338015; [53]PMID:28371821
Subependymoma, WHO grade I Typically balanced genomes

Loss: -6/6q in spinal tumors

No diagnostic mutations Favorable prognosis WHO CNS Tumors (2016)

[54]PMID:21959044; [55]PMID:21840481

Myxopapillary ependymoma, WHO grade I Aneuploidy: multiple chromosomes lost and gained Mutation: NF2 (including germline) in spinal tumors Less common but more aggressive in children [48]PMID:25965575; [56]PMCID:3991130; [57]PMID:20425037; [58]PMID:25957288; [51]PMID:22516549
Ependymoma, RELA fusion-positive, WHO grade II or III Gain: 1q

Aneuploidy: multiple chromosomes lost and gained
Chromothripsis: chromosome 11 (70% of supratentorial tumors)

Fusion: C11ORF95-RELA (supratentorial tumors)

Loss: CDKN2A/CDKN2B (may help distinguish from other supratentorial ependymomas)

Unfavorable prognosis; occur in infants or children [48]PMID:25965575; [59]PMID:24553141; [53]PMID:28371821
Anaplastic ependymoma (no WHO grade assigned) Epigenetic studies suggest range of abnormalities: balanced or unbalanced genomes Mutation: NF2 (including germline) in spinal tumors

Fusion: RELA fusions, YAP1 fusions can correspond to anaplastic histology

Mostly intracranial tumors, rarely in spinal cord; YAP1 fusion tumors can occur in infants [48]PMID: 25965575
EMBRYONAL TUMORS WHO CNS Tumors (2016)
Medulloblastoma WNT-activated Loss: monosomy 6/6q- as sole finding in 85% Mutation: CTNNB1, DDX3X, TP53, SMARCA4, KMT2D, APC (germline mutations in Turcot syndrome) Common in children > 3 years of age; typically show classic histology, rarely metastasize; overall favorable prognosis [60]PMID:22832581, [61]PMID:24493713; [62]PMID:22134537 [63]PMID:24894640; [64]PMID:16258095; [65]PMID:22358457; [66]PMID:25043047 [67]PMID:22820256; [68]PMID:26976201; [69]PMID:20823417 [70]PMID:22265402; [71]PMCID:3889646; [72]PMID:16567768 [73]PMID:20940197
SHH-activated Gain: 3q

Loss: 9q, 10q, 17p
Ploidy changes: Tetraploidy associated with chromothripsis and TP53 mutations
Chromothripsis: associated with TP53 mutation

Mutation:

TP53 wild-type tumors: PTCH1 (germline mutations in Gorlin syndrome), SMO, SUFU (can be germline), TERT promoter
TP53-mutant tumors: can be germline
Loss: PTCH1, PTEN
Amplification: GLI2 (TP53-mutant tumors), IGF1R, PPM1D, MYCN (TP53-mutant tumors), YAP1, MIR17/92, MDM4

Common in infants, rare in children, most common type of medulloblastoma in adults; Desmoplastic (or nodular) histology common; TP53 wild-type usually correlate with extensive nodularity or desmoplastic histology; TP53-mutant tumors correlate with metastatic disease [74]PMID:24651015; [75]PMID:21681522; [60]PMID:22832581 [61]PMID:24493713; [76]PMID:24077351; [62]PMID:22134537; [65]PMID:22358457 [66]PMID:25043047; [67]PMID:22820256; [68]PMID:26976201 [68]PMID:20823417; [70]PMID:22265402; [71]PMCID:3889646 [72]PMID:16567768; [73]PMID:20940197
Group3 Gain: 1q, 7, 18q

Loss: 5q, 8, 10q, 11p, 16q
Rearrangement: idic(17)(p11.2)
Ploidy changes: tetraploidy in 40-50% of Group3/Group4 tumors

Mutation/Amplification: MYC (mainly in infants), OTX2, CDK6, SMARC4A, CTDNEP1, LRP1B, KMT2D

Fusions: PVT1-MYC, PVT1-NDRG1; GFI1/GFI1B structural variants

Usually classic histology, ~ 50% are metastatic at time of diagnosis, Not generally observed in adults [60]PMID:22832581, [66]PMID:25043047; [61]PMID:24493713 [62]PMID:22134537; [65]PMID:22358457; [67]PMID:22820256; [68]PMID:26976201; [68]PMID:20823417 [70]PMID:22265402; [71]PMCID:3889646; [72]PMID:16567768 [73]PMID:20940197
Group4 Gain: 7, 18q

Loss: X, 8, 11p
Rearrangement: idic(17)(p11.2) in >80%
Chromothripsis: rare, but associated with TP53 loss when observed

Mutation: TP53, KDM6A, KMT2C

Amplification: MYCN, CDK4, CDK6, OTX2
Rearrangement: SNCAIP tandem duplication; GFI1/GFI1B structural variants

Rarely seen in infants; usually classic histology [60]PMID:22832581; [66]PMID:25043047; [61]PMID:24493713; [62]PMID:22134537; [65]PMID:22358457; [67]PMID:22820256; [68]PMID:26976201; [68]PMID:20823417 [70]PMID:22265402; [71]PMCID:3889646; [72]PMID:16567768 [73]PMID:20940197
Atypical teratoid/rhabdoid tumor (AT/RT) Loss: 22/22q, though a subset of AT/RT-like tumors retain 22q Classic AT/RT: SMARCB1 mutation/deletion/exonic duplication in 98% of tumors

AT/RT-like tumors: SMARCB1 can be retained (with SMARCA4 mutations)
Three molecular classes:
TYR: ~ 75% show broad 22q loss that includes SMARCB1
SHH: ~ 50% lack any SMARCB1 mutation; ~ 25% have focal SMARCB1 aberrations
MYC: ~ 75% show focal SMARCB1 loss

Most cases occur before 3 yrs of age

TYR subclass: mostly infratentorial
SHH subclass: supra/infratentorial
MYC subclass: mostly supratentorial

Embryonal tumor with multilayered rosettes, C19MC-altered ETMR (incl. ETANTR): occasionally polysomy 2 ETANTR: miRNA cluster C19MC amplification Occurs mainly in children < 4 yrs old WHO CNS Tumors (2016)

[77]PMID:24839957; [78]PMID:24470553 [79]PMID:24337497; [80]PMID:22324795 [81]PMID:20407781, [82]PMID:19057917

Embryonal tumor, other CNS NB-FOXR2 group: 1q gain, 16q loss, polysomy 8

CNS EFT-CIC group: polysomy 8
CNS HGNET-MN1 group: 16q loss, polysomy 8
CNS HGNET-BCOR group: mostly balanced genomes

CNS NB-FOXR2 group: JMJD1C fusions, FOXR2 fusion or deletion

CNS EFT-CIC group: NUTM1 rearrangement/fusion, CIC rearrangement
CNS HGNET-MN1 group: MN1 rearrangement
CNS HGNET-BCOR group: BCOR intragenic tandem duplication

Most common in children, but may also occur in adolescents and adults WHO CNS Tumors (2016)

[83]PMID:26919435; [84]PMID:22691720; [85]PMID:22772606

CHOROID PLEXUS TUMORS (CPT) Choroid plexus papilloma(CPP, WHO grade I) and atypical choroid plexus papilloma (WHO grade II) Hyperdiploidy

Loss: rare, no recurrent losses

No diagnostic mutations/events CPP and aCPP likely belong to same molecularly defined entity; CPP is a diagnostic feature of Aircardi syndrome WHO CNS Tumors (2016)

[86]PMID:23172371; [87]PMID:25575132; [88]PMID:25336695 [89]PMID:11891207

Choroid plexus carcinoma (CPC, WHO grade III) Aneuploidy (including both hypo- and hyperdiploidy types of CPC); copy neutral LOH is frequent, particularly involving chromosome 17

Gain: 1, 7, 12, 20 in > 80% of hyperdiploid CPCs
Loss: 3 (in all hypodiploid CPC), 6, 11, 12q, 16, 22

Mutation: TP53 in > 50%

Amplification: PDGFRB

80% occur in children; associated with Li-Fraumeni syndrome; Lack of SMARCB1/SMARCA4 aberrations can be used to distinguish CPC from AT/RT [90]PMID:24478045; [91]PMID:21990040; [87]PMID:25575132; [92]PMID:18157090; [88]PMID:25336695

Table 2: Adult CNS Tumors. CGC CNS Workgroup 2015-2018. Table derived from Neill et al., 2020 [PMID: 32203924] with permission from Cancer Genetics.

TUMOR SUBTYPES BROAD ABERRATIONS (>10Mb) FOCAL ABERRATIONS (<10Mb) CLINICAL FEATURES REFERENCES
GLIOMAS
Low grade gliomas, WHO grade I-II Pilocytic astrocytoma Gain: 5, 7, 6, 11

Loss: 1, 2, 3, 13, 14, 16, 17, 19

Fusion: KIAA1549-BRAF fusion (via 3'BRAF duplication), other BRAF partners reported; NTRK fusions (rare)

Mutation: FGFR1

Aneuploidy is more predominant in adult PA; Infratentorial tumors are more likely to have BRAF fusions/dup and be wildtype for BRAF mutations; Extra-cerebellar tumors are more likely to be BRAF V600E+, but negative for fusion; Surgical resection can be curative [93]PMID: 24470550; [6]PMID:26378811; [5]PMID: 25664944; [94]PMID:26992069
Pleomorphic xanthoastrocytoma (PXA) Gain: 7, 2, 5, 21, 20, 12, 15

Loss: monosomy 9 / 9p deletion most common, 22, 14, 13, 10
CN-LOH: 9p, 22

Loss: homozygous loss CDKN2A/CDKN2B

Mutation: BRAF V600E

Adults and pediatric tumors show similar CNVs; CDKN2A/CDKN2B loss may correlate with anaplastic histology [95]PMID:23442159; [96]PMID:28181325
Ganglioglioma Gain: polysomy 5, polysomy 7, 10p

Loss: 1p loss, monosomy (with focal CDKN2A loss)

Mutation: BRAF V600E, TSC1, TSC2, FGFR1, FGFR2, KRAS Generally indolent tumors; surgical resection can be curative [95]PMID:23442159; [97]PMID:25764012; [18]PMID:29880043
Angiocentric glioma Loss: 6q24-q25 Fusion: MYB-QKI rearrangement/deletion (classic histology)

Rearrangement: MYB alone (atypical histology)
Amplification: MYB (atypical histology)

Generally indolent tumors; surgical resection can be curative [13]PMID:26829751
Dysembryoplastic neuroepithelial tumor (DNET) No specific changes Mutation: intragenic duplication or mutation FGFR1; BRAF V600E Rare in adults; Benign with excellent prognosis even with subtotal resection [98]PMID:26920151; [95]PMID:23442159; [99]PMID:21937911
Rosette forming glioneuronal tumor Gain:1q , 7, 9, 16

Loss: 1p
Amplification: 9q34.2, 19p13.3

Fusion: KIAA1549-BRAF fusion (via 3'BRAF duplication)

Mutation: PIK3CA, FGFR1
Amplification: SBNO2

Generally indolent tumors; surgical resection can be curative [100]PMID:27893178; [101]PMID:26371886
Infiltrating Gliomas Diffuse astrocytoma/anaplastic Astrocytoma, WHO grade II/III, IDH mutant Gain: 4q, 7q, 8q24, 12q

Loss: 9p, 19q (without 1p)

Gain: MYC

Loss: CDKN2A/CDKN2B, PML15q22

Better prognosis than IDH wildtype astrocytoma; Progression to grade IV will often involves loss of 10q, gain of CDK4, CDK6, and cyclin E2, and an increase in copy number alterations. [20]PMID:26824661; [102]PMID:26061753; [103]PMID:25263767 [104]PMID:26061754; [105]PMID:28535583; [106]PMID:26091668 [107]PMID: 25701198; [108]PMID:26865861; [30]PMID:29687258
Diffuse astrocytoma/anaplastic astrocytoma, WHO grade II/III, IDH wild-type Gain: 7, 19

Loss: 4, 9p 10
Amplification: EGFR, MDM4, CDK4

Loss: homozygous CDKN2A/CDKN2B

Mutation: EGFR, NF1, PTEN
Amplification: EGFR, MDM4, CDK4

Poor prognosis with similar abnormalities to glioblastoma [104]PMID:26061754; [20]PMID:26824661; [105]PMID:28535583 [106]PMID:26091668; [109]PMID:26810070
Oligodendroglioma/anaplastic oligodendroglioma, WHO grade II/III, IDH mutant Rearrangement: der(1;19)(q10;p10) leads to 1p/19q co-deletion

Loss: 1p/19q, 9p, 14q, less frequent 4, 18q

Gain: MYC

Loss: MAX (14q), FBXW7, CDKN2A/CDKN2B
Mutation: FUBP1, CIC, IDH, TERT, NOTCH1, PIK3CA or PIK3R1

Activation of MYC pathway is often seen with loss of 9p (CDKN2A/B), and 14q (MAX gene) and is reported to have a worse prognosis [110]PMID:27090007; [102]PMID:26061753; [103]PMID:25263767 [104]PMID:26061754; [111]PMID:24335697; [5]PMID:25664944; [112]PMID:26941959; [20]PMID:26824661 [19]PMID:26061751
Glioblastoma , grade IV, IDH mutant Gain: 1/1q, 6p

Loss: 3p, 10, 13, 14, 15, 22 (3, 4q, 19q, 16p, 21q, 5p seen in age <40)
Amplification: CDK6, cyclin E2 (CCNE2), CDK4, MET
Chromothripsis

Gain or Amplification: CDK4, CDK6, cyclin E2 (CCNE2)

Loss: PTEN

About 10% of glioblastomas; correspond closely to secondary glioblastoma with history of prior glioma. These cases often involve loss of 10q , gain of CDK4, CDK6, cyclin E2, and increase in copy number alterations. [104]PMID:26061754; [37]PMID:25754088; [105]PMID:28535583 [113]PMID:25931051; [106]PMID:26091668; [4]PMID:25461780; [114]PMID:27157931; [34]PMID:25727226; [115]PMID:26323991 [19]PMID:26061751; [30]PMID:29687258
Glioblastoma , grade IV, IDH wildtype Loss: 4, 9p, 10, 13, 14, 15, 22 , (3, 4q, 19q, 16p, 21q, 5p loss in age <40)

Gain: 7, 19, 20 (1q, 12p, 11q, 9q, 4, 10p gain in age <40)
Amplification: EGFR, MDM4, CDK4, MET

Loss: homozygous CDKN2A/CDKN2B, PTEN, RB1

Mutation: TERT, EGFR, PTEN, NF1, RB1, PIK3CA or PIK3R1, TP53
Amplification: EGFR, MDM4, MDM2, CDK4, PDGFRA, MET

Overall poor prognosis. Gain of 19q, amplification of EGFR, and homozygous loss of CDKN2A are seen primarily in patients over age 40. Co-gain of 19 and 20 may be associated with longer survival. [104]PMID:26061754; [37]PMID:25754088; [105]PMID:28535583 [113]PMID:25931051; [106]PMID:26091668; [4]PMID:25461780; [114]PMID:27157931; [34]PMID:25727226; [19]PMID:26061751
MENINGIOMA
Grade 1 No copy number changes in 44%

Gain: multiple polysomies, 5
Loss: 22/22q- common as sole aberration
CN-LOH: 1p, 14q

Loss: NF2, CDKN2A, PTEN

Mutation: NF2, PI3K, SMO, AKT1, KLF4, TRAF7, TERT, ARID1A

Array findings characteristic of higher grade tumors when histology supports lower grade may suggest increased likelihood of recurrence. Polysomy, particularly involving chromosome 5, are seen in angiomatous meningiomas. LOH 1p and/or LOH 1p/14q correlated with anaplastic transformation. [56]PMID:23528542; [116]PMID:27575681; [117]PMID:20015288 [118]PMID:21988727; [119]PMID19918127; [120]PMID:25347344 [121]PMID:23334667; [122]PMID:25963524; [123]PMID:26826201 [124]PMID:28195122; [125]PMID:26323607;

[126]PMID:11958368; [127]PMID:25965831; [128]PMID:24536048; [129]PMID:24722350 [130]PMID:12568317; [131]PMID:26771848; [132]PMID:27012381; [133]PMID:27480481; [134]PMID:27624470; [135]PMID:27458586; [136]PMID:17225936

Grade 2 atypical Gain: 1q, 9q, 12q, 15q, 17q, 20q

Loss: 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p, 18/18q, 19q, 22/loss 22q

Loss: NF2, CDKN2A, PTEN

Mutation: NF2, CDKN2A/CDKN2C, SMARCE1, SMARCB1, TERT

Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases. [56]PMID:23528542; [116]PMID:27575681; [117]PMID:20015288 [117]PMID:21988727; [119]PMID19918127; [120]PMID:25347344 [121]PMID:23334667; [122]PMID:25963524; [123]PMID:26826201 [124]PMID:28195122; [125]PMID:26323607; [126]PMID:11958368; [127]PMID:25965831; [128]PMID:24536048; [129]PMID:24722350 [130]PMID:12568317; [131]PMID:26771848; [132]PMID:27012381; [133]PMID:27480481; [134]PMID:27624470; [135]PMID:27458586; [136]PMID:17225936
Grade 3 anaplastic Gain: 1q, 9q, 12q, 15q, 17q23, 20q

Loss: 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p,18/18q,19q,22/loss 22q

Loss: NF2, CDKN2A, PTEN

Mutation: NF2, CDKN2A/CDKN2C, TERT
Amplification: RPS6K in higher grades, 17q23

Loss of 9p and amplification or gain of 17q23 are more frequent than other abnormalities. Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases. [56]PMID:23528542; [116]PMID:27575681; [117]PMID:20015288 [117]PMID:21988727; [119]PMID19918127; [120]PMID:25347344 [121]PMID:23334667; [122]PMID:25963524; [123]PMID:26826201 [124]PMID:28195122; [125]PMID:26323607; [126]PMID:11958368; [127]PMID:25965831; [128]PMID:24536048; [129]PMID:24722350 [130]PMID:12568317; [131]PMID:26771848; [132]PMID:27012381; [133]PMID:27480481; [134]PMID:27624470; [135]PMID:27458586; [136]PMID:17225936
EPENDYMOMA

(in order of increasing WHO grade)

DNA-based methylation classifies tumors across anatomical sites --- intracranial (posterior fossa or supratentorial) or spinal --- and across tumor grades and age groups Fusion: YAP1 fusions (supratentorial tumors)

Mutation: NF2 (spinal tumors)
Loss: CDKN2A

Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is not reliable; Prognostic differences among tumors suggested on the basis of methylation analysis WHO CNS Tumors (2016)

[48]PMID:25965575; [49]PMID:21627842; [50]PMID:24939246; [51]PMID:22516549

Classic ependymoma (no WHO grade assigned) Gain: 1q, 5, 7, 9, 11, 18, 20

Loss: 1p, 3, -6/6q, 9p, 13q, 17, 22

Loss: CDKN2A/CDKN2B (rare); NF2

Mutation: NF2 (esp. in spinal tumors)

Usually intracranial, spinal tumors (myxopapillary) are rare; 80% of pediatric tumors develop in posterior fossa (PF); Supratentorial tumors preferentially show monosomy 9; 1q gain is unfavorable prognostic indicator in PF tumors; spinal tumors associated with NF2 mutation (germline) [48]PMID:25965575; [52]PMID:22338015; [53]PMID:28371821
Subependymoma, WHO grade I

(intracranial or spinal)

Typically balanced genomes

Loss: -6/6q in spinal tumors

No diagnostic mutations Favorable prognosis WHO CNS Tumors (2016)

[54]PMID:21959044; [55]PMID:21840481

Myxopapillary ependymoma, WHO grade I (spinal) Aneuploidy: multiple chromosomes lost and gained Mutation: NF2 (including germline) in spinal tumors More common in adults [48]PMID:25965575; [56]PMCID:3991130; [57]PMID:20425037 [58]PMID:25957288; [51]PMID:22516549
Ependymoma, RELA fusion-positive, WHO grade II or III

(intracranial)

Gain: 1q

Aneuploidy: multiple chromosomes lost and gained
Chromothripsis: chromosome 11 (70% of supratentorial tumors)

Fusion: C11ORF95-RELA (supratentorial tumors)

Loss: CDKN2A/CDKN2B (may help distinguish from other supratentorial ependymomas)

Unfavorable prognosis [48]PMID:25965575; [59]PMID:24553141; [53]PMID:28371821
Anaplastic ependymoma (no WHO grade assigned; intracranial or spinal) Epigenetic studies suggest range of abnormalities: balanced or unbalanced genomes Mutation: NF2 (including germline) in spinal tumors

Fusion: RELA fusions, YAP1 fusions can correspond to anaplastic histology

Mostly intracranial tumors, rarely in spinal cord [48]PMID: 25965575; [137]PMID:27022130

Reference

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