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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 12:11, 16 April 2021
, 12:11, 16 April 2021updated citation
|'''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
|PMID:22832581, PMID:24493713; PMID:22134537 PMID:24894640; PMID:16258095; PMID:22832581 PMID:24493713; PMID:22358457; PMID:25043047 PMID:22820256; PMID:26976201; PMID:20823417 PMID:22265402; PMCID:3889646; PMID:16567768 PMID:20940197; PMID:23175120
|<ref name=":28">{{Cite journal|last=Northcott|first=Paul A.|last2=Shih|first2=David J. H.|last3=Peacock|first3=John|last4=Garzia|first4=Livia|last5=Morrissy|first5=A. Sorana|last6=Zichner|first6=Thomas|last7=Stütz|first7=Adrian M.|last8=Korshunov|first8=Andrey|last9=Reimand|first9=Jüri|date=2012-08-02|title=Subgroup-specific structural variation across 1,000 medulloblastoma genomes|url=https://pubmed.ncbi.nlm.nih.gov/22832581|journal=Nature|volume=488|issue=7409|pages=49–56|doi=10.1038/nature11327|issn=1476-4687|pmc=3683624|pmid=22832581}}</ref>PMID:22832581, <ref name=":29">{{Cite journal|last=Shih|first=David J. H.|last2=Northcott|first2=Paul A.|last3=Remke|first3=Marc|last4=Korshunov|first4=Andrey|last5=Ramaswamy|first5=Vijay|last6=Kool|first6=Marcel|last7=Luu|first7=Betty|last8=Yao|first8=Yuan|last9=Wang|first9=Xin|date=2014-03-20|title=Cytogenetic prognostication within medulloblastoma subgroups|url=https://pubmed.ncbi.nlm.nih.gov/24493713|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=32|issue=9|pages=886–896|doi=10.1200/JCO.2013.50.9539|issn=1527-7755|pmc=3948094|pmid=24493713}}</ref>PMID:24493713; <ref name=":30">{{Cite journal|last=Taylor|first=Michael D.|last2=Northcott|first2=Paul A.|last3=Korshunov|first3=Andrey|last4=Remke|first4=Marc|last5=Cho|first5=Yoon-Jae|last6=Clifford|first6=Steven C.|last7=Eberhart|first7=Charles G.|last8=Parsons|first8=D. Williams|last9=Rutkowski|first9=Stefan|date=2012-04|title=Molecular subgroups of medulloblastoma: the current consensus|url=https://pubmed.ncbi.nlm.nih.gov/22134537|journal=Acta Neuropathologica|volume=123|issue=4|pages=465–472|doi=10.1007/s00401-011-0922-z|issn=1432-0533|pmc=3306779|pmid=22134537}}</ref>PMID:22134537 <ref>{{Cite journal|last=Goschzik|first=Tobias|last2=Zur Mühlen|first2=Anja|last3=Kristiansen|first3=Glen|last4=Haberler|first4=Christine|last5=Stefanits|first5=Harald|last6=Friedrich|first6=Carsten|last7=von Hoff|first7=Katja|last8=Rutkowski|first8=Stefan|last9=Pfister|first9=Stefan M.|date=2015-02|title=Molecular stratification of medulloblastoma: comparison of histological and genetic methods to detect Wnt activated tumours|url=https://pubmed.ncbi.nlm.nih.gov/24894640|journal=Neuropathology and Applied Neurobiology|volume=41|issue=2|pages=135–144|doi=10.1111/nan.12161|issn=1365-2990|pmid=24894640}}</ref>PMID:24894640; <ref>{{Cite journal|last=Ellison|first=David W.|last2=Onilude|first2=Olabisi E.|last3=Lindsey|first3=Janet C.|last4=Lusher|first4=Meryl E.|last5=Weston|first5=Claire L.|last6=Taylor|first6=Roger E.|last7=Pearson|first7=Andrew D.|last8=Clifford|first8=Steven C.|last9=United Kingdom Children's Cancer Study Group Brain Tumour Committee|date=2005-11-01|title=beta-Catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children's Cancer Study Group Brain Tumour Committee|url=https://pubmed.ncbi.nlm.nih.gov/16258095|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=23|issue=31|pages=7951–7957|doi=10.1200/JCO.2005.01.5479|issn=0732-183X|pmid=16258095}}</ref>PMID:16258095; <ref name=":31">{{Cite journal|last=Kool|first=Marcel|last2=Korshunov|first2=Andrey|last3=Remke|first3=Marc|last4=Jones|first4=David T. W.|last5=Schlanstein|first5=Maria|last6=Northcott|first6=Paul A.|last7=Cho|first7=Yoon-Jae|last8=Koster|first8=Jan|last9=Schouten-van Meeteren|first9=Antoinette|date=2012-04|title=Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas|url=https://pubmed.ncbi.nlm.nih.gov/22358457|journal=Acta Neuropathologica|volume=123|issue=4|pages=473–484|doi=10.1007/s00401-012-0958-8|issn=1432-0533|pmc=3306778|pmid=22358457}}</ref>PMID:22358457; <ref name=":32">{{Cite journal|last=Northcott|first=Paul A.|last2=Lee|first2=Catherine|last3=Zichner|first3=Thomas|last4=Stütz|first4=Adrian M.|last5=Erkek|first5=Serap|last6=Kawauchi|first6=Daisuke|last7=Shih|first7=David J. 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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'''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
|PMID:24651015; PMID:21681522; PMID:22832581 PMID:24493713; PMID:24077351; PMID:22134537; PMID:22832581; PMID:24493713; PMID:22358457 PMID:25043047; PMID:22820256; PMID:26976201 PMID:20823417; PMID:22265402; PMCID:3889646 PMID:16567768; PMID:20940197; PMID:23175120
|PMID:24651015; PMID:21681522; <ref name=":28" />PMID:22832581 <ref name=":29" />PMID:24493713; 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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'''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
|PMID:22832581, PMID:25043047; PMID:24493713 PMID:23175120; PMID:22134537; PMID:22832581; PMID:24493713; PMID:22358457; PMID:25043047 PMID:22820256; PMID:26976201; PMID:20823417 PMID:22265402; PMCID:3889646; PMID:16567768 PMID:20940197; PMID:23175120
|<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
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'''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
|PMID:22832581; PMID:25043047; PMID:24493713 PMID:23175120; PMID:22134537; PMID:22832581; PMID:24493713; PMID:22358457; PMID:25043047 PMID:22820256; PMID:26976201; PMID:20823417 PMID:22265402; PMCID:3889646; PMID:16567768 PMID:20940197 PMID:23175120
|<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
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|Atypical teratoid/rhabdoid tumor (AT/RT)
|Atypical teratoid/rhabdoid tumor (AT/RT)