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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 13:05, 15 April 2021
, 13:05, 15 April 2021adding citations
'''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; PMID:11996800 PMID:23609006; 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
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|Low grade glioma, WHO grade II
|Low grade glioma, WHO grade II
'''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; PMID:26061751 PMID:26824661; 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
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'''Loss:''' CDKN2A/CDKN2B
'''Loss:''' CDKN2A/CDKN2B
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|<ref name=":0" />PMID:25461780; <ref name=":3" />PMID:23583981; PMID:16909113; 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
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|Anaplastic astrocytoma, WHO grade III
|Anaplastic astrocytoma, WHO grade III
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|IDH-wild type astrocytomas can be more clinically aggressive than those that are IDH-mutant
|IDH-wild type astrocytomas can be more clinically aggressive than those that are IDH-mutant
|PMCID:1891902; PMID:26004297; <ref name=":0" />PMID:25461780; PMID:24140581; PMCID:5323185; PMID:27230974 PMID:27196377; PMID:26061751; PMID:25962792; PMID:29687258
|<ref name=":11">{{Cite journal|last=Rickert|first=Christian H.|last2=Sträter|first2=Ronald|last3=Kaatsch|first3=Peter|last4=Wassmann|first4=Hansdetlef|last5=Jürgens|first5=Heribert|last6=Dockhorn-Dworniczak|first6=Barbara|last7=Paulus|first7=Werner|date=2001-4|title=Pediatric High-Grade Astrocytomas Show Chromosomal Imbalances Distinct from Adult Cases|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1891902/|journal=The American Journal of Pathology|volume=158|issue=4|pages=1525–1532|doi=10.1016/S0002-9440(10)64103-X|issn=0002-9440|pmc=1891902|pmid=11290570}}</ref>PMCID:1891902; <ref name=":10" />PMID:26004297; <ref name=":0" />PMID:25461780; <ref>{{Cite journal|last=Killela|first=Patrick J.|last2=Pirozzi|first2=Christopher J.|last3=Reitman|first3=Zachary J.|last4=Jones|first4=Sian|last5=Rasheed|first5=B. Ahmed|last6=Lipp|first6=Eric|last7=Friedman|first7=Henry|last8=Friedman|first8=Allan H.|last9=He|first9=Yiping|date=2014-03-30|title=The genetic landscape of anaplastic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/24140581|journal=Oncotarget|volume=5|issue=6|pages=1452–1457|doi=10.18632/oncotarget.1505|issn=1949-2553|pmc=4039223|pmid=24140581}}</ref>PMID:24140581; <ref name=":12">{{Cite journal|last=Koschmann|first=Carl|last2=Zamler|first2=Daniel|last3=MacKay|first3=Alan|last4=Robinson|first4=Dan|last5=Wu|first5=Yi-Mi|last6=Doherty|first6=Robert|last7=Marini|first7=Bernard|last8=Tran|first8=Dustin|last9=Garton|first9=Hugh|date=2016-08-25|title=Characterizing and targeting PDGFRA alterations in pediatric high-grade glioma|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323185/|journal=Oncotarget|volume=7|issue=40|pages=65696–65706|doi=10.18632/oncotarget.11602|issn=1949-2553|pmc=5323185|pmid=27582545}}</ref>PMCID:5323185; <ref>{{Cite journal|last=Grimm|first=Sean A.|last2=Chamberlain|first2=Marc C.|date=2016-07|title=Anaplastic astrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/27230974|journal=CNS oncology|volume=5|issue=3|pages=145–157|doi=10.2217/cns-2016-0002|issn=2045-0915|pmc=6042632|pmid=27230974}}</ref>PMID:27230974 <ref>{{Cite journal|last=Hattori|first=Natsuki|last2=Hirose|first2=Yuichi|last3=Sasaki|first3=Hikaru|last4=Nakae|first4=Shunsuke|last5=Hayashi|first5=Saeko|last6=Ohba|first6=Shigeo|last7=Adachi|first7=Kazuhide|last8=Hayashi|first8=Takuro|last9=Nishiyama|first9=Yuya|date=2016-08|title=World Health Organization grade II-III astrocytomas consist of genetically distinct tumor lineages|url=https://pubmed.ncbi.nlm.nih.gov/27196377|journal=Cancer Science|volume=107|issue=8|pages=1159–1164|doi=10.1111/cas.12969|issn=1349-7006|pmc=4982592|pmid=27196377}}</ref>PMID:27196377; <ref name=":8" />PMID:26061751; <ref>{{Cite journal|last=Reuss|first=David E.|last2=Mamatjan|first2=Yasin|last3=Schrimpf|first3=Daniel|last4=Capper|first4=David|last5=Hovestadt|first5=Volker|last6=Kratz|first6=Annekathrin|last7=Sahm|first7=Felix|last8=Koelsche|first8=Christian|last9=Korshunov|first9=Andrey|date=2015-06|title=IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little difference in survival: a grading problem for WHO|url=https://pubmed.ncbi.nlm.nih.gov/25962792|journal=Acta Neuropathologica|volume=129|issue=6|pages=867–873|doi=10.1007/s00401-015-1438-8|issn=1432-0533|pmc=4500039|pmid=25962792}}</ref>PMID:25962792; <ref name=":13">{{Cite journal|last=Shirahata|first=Mitsuaki|last2=Ono|first2=Takahiro|last3=Stichel|first3=Damian|last4=Schrimpf|first4=Daniel|last5=Reuss|first5=David E.|last6=Sahm|first6=Felix|last7=Koelsche|first7=Christian|last8=Wefers|first8=Annika|last9=Reinhardt|first9=Annekathrin|date=2018-07|title=Novel, improved grading system(s) for IDH-mutant astrocytic gliomas|url=https://pubmed.ncbi.nlm.nih.gov/29687258|journal=Acta Neuropathologica|volume=136|issue=1|pages=153–166|doi=10.1007/s00401-018-1849-4|issn=1432-0533|pmid=29687258}}</ref>PMID:29687258
|-
|-
|Other
|Other
'''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:''' IDH1/2 (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
|Overall poor prognosis
|Overall poor prognosis
|PMID:25752754; PMID:25727226; PMID:26328271; PMID:22837387; PMID:25754088; <ref name=":0" />PMID:25461780; PMCID:1891902; PMID:23417712; PMCID:5323185; PMID:29687258; PMID:20479398; PMID:24959384
|PMID:25752754; PMID:25727226; PMID:26328271; PMID:22837387; PMID:25754088; <ref name=":0" />PMID:25461780; <ref name=":11" />PMCID:1891902; PMID:23417712; <ref name=":12" />PMCID:5323185; <ref name=":13" />PMID:29687258; PMID:20479398; PMID:24959384
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|Diffuse midline glioma, H3 K27M mutant
|Diffuse midline glioma, H3 K27M mutant
|'''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
|PMID:23442159; PMID:25764012; PMID:29880043
|PMID:23442159; PMID:25764012; <ref name=":7" />PMID:29880043
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'''Loss:''' CDKN2A/B, PML15q22
'''Loss:''' CDKN2A/B, 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.
|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.
|PMID:26824661; PMID:26061753; PMID:25263767 PMID:26061754; PMID:28535583; PMID:26091668 PMID: 25701198; PMID:26865861; PMID:29687258
|<ref name=":9" />PMID:26824661; PMID:26061753; PMID:25263767 PMID:26061754; PMID:28535583; PMID:26091668 PMID: 25701198; PMID:26865861; <ref name=":13" />PMID:29687258
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'''Amplification:''' EGFR, MDM4, CDK4
'''Amplification:''' EGFR, MDM4, CDK4
|Poor prognosis with similar abnormalities to glioblastoma
|Poor prognosis with similar abnormalities to glioblastoma
|PMID:26061754; PMID:26824661;PMID:28535583 PMID:26091668; PMID:26810070
|PMID:26061754; <ref name=":9" />PMID:26824661;PMID:28535583 PMID:26091668; PMID:26810070
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'''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
|PMID:27090007; PMID:26061753; PMID:25263767 PMID:26061754; PMID:24335697; <ref name=":1" />PMID:25664944;PMID:26061753; PMID:26941959; PMID:26824661 PMID:26061751
|PMID:27090007; PMID:26061753; PMID:25263767 PMID:26061754; PMID:24335697; <ref name=":1" />PMID:25664944;PMID:26061753; PMID:26941959; <ref name=":9" />PMID:26824661 <ref name=":8" />PMID:26061751
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'''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.
|PMID:26061754; PMID:25754088; PMID:28535583 PMID:25931051; PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; PMID:25727226; PMID:26323991 PMID:26061751; PMID:29687258
|PMID:26061754; PMID:25754088; PMID:28535583 PMID:25931051; PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; PMID:25727226; PMID:26323991 <ref name=":8" />PMID:26061751; <ref name=":13" />PMID:29687258
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'''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.
|PMID:26061754; PMID:25754088; PMID:28535583 PMID:25931051; PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; PMID:25727226; PMID:26061751
|PMID:26061754; PMID:25754088; PMID:28535583 PMID:25931051; PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; PMID:25727226; <ref name=":8" />PMID:26061751
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|'''MENINGIOMA'''
|'''MENINGIOMA'''