Changes

Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)

Revision as of 12:51, 15 April 2021

6,544 bytes added , 12:51, 15 April 2021

adding citations

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'''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

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|<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 PMID:25664944; PMID:26378811 PMCID:3429698; PMID:23817572; PMID:23583981 PMID:18974108; PMID:23278243; PMID:21274720

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|<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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'''Amplification:''' MYB (atypical histology)

|Generally indolent tumors; surgical resection can be curative

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|PMID:26829751; PMID:23633565; PMID:26778052 PMID:23583981

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|<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

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'''Fusions:''' KIAA1549-BRAF

|Generally indolent tumors for which surgical resection can be curative

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|<ref name=":0" />PMID:25461780; PMID:23583981; PMID:11996800 PMID:23609006; PMID:29880043

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|<ref name=":0" />PMID:25461780; <ref name=":3" />PMID:23583981; PMID:11996800 PMID:23609006; PMID:29880043

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|Low grade glioma, WHO grade II

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'''Mutation:''' FGFR1

|Anaplastic features associated with decreased progression free survival

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|PMID:25664944; PMID:23633565; PMID:26061751 PMID:26824661; PMID:26004297; <ref name=":0" />PMID:25461780 PMID:23583981

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|<ref name=":1" />PMID:25664944; <ref name=":6" />PMID:23633565; PMID:26061751 PMID:26824661; PMID:26004297; <ref name=":0" />PMID:25461780 <ref name=":3" />PMID:23583981

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'''Loss:''' CDKN2A/CDKN2B

|

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|<ref name=":0" />PMID:25461780; PMID:23583981; PMID:16909113; PMID:12484572

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|<ref name=":0" />PMID:25461780; <ref name=":3" />PMID:23583981; PMID:16909113; PMID:12484572

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|Anaplastic astrocytoma, WHO grade III

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|CDKN2A/CDKN2B loss may correlate with anaplastic histology

|WHO CNS Tumors (2016)<br>

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PMID:25318587; PMID:23096133; PMID:21274720

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PMID:25318587; PMID:23096133; <ref name=":4" />PMID:21274720

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|Glioblastoma, WHO grade IV

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'''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

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|PMID: 24470550; PMID:26378811; PMID: 25664944; PMID:26992069

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|PMID: 24470550; <ref name=":2" />PMID:26378811; <ref name=":1" />PMID: 25664944; PMID:26992069

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'''Amplification:''' MYB (atypical histology)

|Generally indolent tumors; surgical resection can be curative

−

|PMID:26829751

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|<ref name=":5" />PMID:26829751

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'''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

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|PMID:27090007; PMID:26061753; PMID:25263767 PMID:26061754; PMID:24335697; PMID:25664944;PMID:26061753; PMID:26941959; PMID:26824661 PMID:26061751

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|PMID:27090007; PMID:26061753; PMID:25263767 PMID:26061754; PMID:24335697; <ref name=":1" />PMID:25664944;PMID:26061753; PMID:26941959; PMID:26824661 PMID:26061751

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|PMID: 25965575; PMID:27022130

|}

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Kilannin.Krysiak

Editors

121

edits