Changes

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

Revision as of 13:23, 15 April 2021

9,345 bytes added , 13:23, 15 April 2021

adding citations

Line 77: Line 77:

|CDKN2A/CDKN2B loss may correlate with anaplastic histology

|WHO CNS Tumors (2016)<br>

−

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

+

<ref>{{Cite journal|last=Ida|first=Cristiane M.|last2=Rodriguez|first2=Fausto J.|last3=Burger|first3=Peter C.|last4=Caron|first4=Alissa A.|last5=Jenkins|first5=Sarah M.|last6=Spears|first6=Grant M.|last7=Aranguren|first7=Dawn L.|last8=Lachance|first8=Daniel H.|last9=Giannini|first9=Caterina|date=2015-09|title=Pleomorphic Xanthoastrocytoma: Natural History and Long-Term Follow-Up|url=https://pubmed.ncbi.nlm.nih.gov/25318587|journal=Brain Pathology (Zurich, Switzerland)|volume=25|issue=5|pages=575–586|doi=10.1111/bpa.12217|issn=1750-3639|pmc=4400218|pmid=25318587}}</ref>PMID:25318587; <ref>{{Cite journal|last=Schmidt|first=Yao|last2=Kleinschmidt-DeMasters|first2=B. K.|last3=Aisner|first3=Dara L.|last4=Lillehei|first4=Kevin O.|last5=Damek|first5=Denise|date=2013-01|title=Anaplastic PXA in adults: case series with clinicopathologic and molecular features|url=https://pubmed.ncbi.nlm.nih.gov/23096133|journal=Journal of Neuro-Oncology|volume=111|issue=1|pages=59–69|doi=10.1007/s11060-012-0991-4|issn=1573-7373|pmc=4617340|pmid=23096133}}</ref>PMID:23096133; <ref name=":4" />PMID:21274720

|-

|Glioblastoma, WHO grade IV

Line 89: Line 89:

'''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

−

|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

+

|<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

|-

|Diffuse midline glioma, H3 K27M mutant

Line 103: Line 103:

'''Amplification:''' MYC, MYCN, ID2, PDGFRA

|Overall poor prognosis regardless of subgroup

−

|PMCID:3280796; PMID:24705254; PMID:24705252 PMID:27048880; PMID:26175967; PMID:24705251; 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

|-

|'''EPENDYMOMA'''<br>

Line 375: Line 375:

'''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.

−

|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

+

|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

|-

|

Line 386: Line 386:

'''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.

−

|PMID:26061754; PMID:25754088; PMID:28535583 PMID:25931051; PMID:26091668; <ref name=":0" />PMID:25461780; PMID:27157931; PMID:25727226; <ref name=":8" />PMID:26061751

+

|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

|-

|'''MENINGIOMA'''

Kilannin.Krysiak

Editors

121

edits