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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 12:30, 16 April 2021
, 12:30, 16 April 2021updated citation
'''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
|PMID: 24470550; <ref name=":2" />PMID:26378811; <ref name=":1" />PMID: 25664944; 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
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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
|PMID:23442159; 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
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|'''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; <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
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|'''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
|PMID:26920151; PMID:23442159; 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
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'''Amplification:''' SBNO2
'''Amplification:''' SBNO2
|Generally indolent tumors; surgical resection can be curative
|Generally indolent tumors; surgical resection can be curative
|PMID:27893178; 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
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|Infiltrating Gliomas
|Infiltrating Gliomas
'''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.
|<ref name=":9" />PMID:26824661; PMID:26061753; PMID:25263767 PMID:26061754; PMID:28535583; PMID:26091668 PMID: 25701198; 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
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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; <ref name=":9" />PMID:26824661;PMID:28535583 PMID:26091668; 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
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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; <ref name=":9" />PMID:26824661 <ref name=":8" />PMID:26061751
|PMID:27090007; <ref name=":42" />PMID:26061753; <ref name=":43" />PMID:25263767 <ref name=":44" />PMID:26061754; PMID:24335697; <ref name=":1" />PMID:25664944; 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; <ref name=":15" />PMID:25754088; PMID:28535583 PMID:25931051; PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; <ref name=":14" />PMID:25727226; 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 PMID:25931051; <ref name=":46" />PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; <ref name=":14" />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; <ref name=":15" />PMID:25754088; PMID:28535583 PMID:25931051; PMID:26091668; <ref name=":0" />PMID:25461780; 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 PMID:25931051; <ref name=":46" />PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; <ref name=":14" />PMID:25727226; <ref name=":8" />PMID:26061751
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|'''MENINGIOMA'''
|'''MENINGIOMA'''