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

Revision as of 16:50, 15 April 2021

4,377 bytes added , 16:50, 15 April 2021

updated citation

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'''Loss:''' 1p, 3, -6/6q, 9p, 13q, 17, 22

|Usually intracranial, spinal tumors (myxopapillary) are rare; 80% of pediatric tumors develop in posterior fossa (PF); Supratentorial tumors preferentially show monosomy 9; 1q gain is unfavorable prognostic indicator in PF tumors; spinal tumors associated with NF2 (germline); children have worse outcomes than adults

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|<ref name=":16" />PMID:25965575; PMID:22338015; PMID:28371821

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|<ref name=":16" />PMID:25965575; <ref name=":21">{{Cite journal|last=Kilday|first=John-Paul|last2=Mitra|first2=Biswaroop|last3=Domerg|first3=Caroline|last4=Ward|first4=Jennifer|last5=Andreiuolo|first5=Felipe|last6=Osteso-Ibanez|first6=Teresa|last7=Mauguen|first7=Audrey|last8=Varlet|first8=Pascale|last9=Le Deley|first9=Marie-Cecile|date=2012-04-01|title=Copy number gain of 1q25 predicts poor progression-free survival for pediatric intracranial ependymomas and enables patient risk stratification: a prospective European clinical trial cohort analysis on behalf of the Children's Cancer Leukaemia Group (CCLG), Societe Francaise d'Oncologie Pediatrique (SFOP), and International Society for Pediatric Oncology (SIOP)|url=https://pubmed.ncbi.nlm.nih.gov/22338015|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=18|issue=7|pages=2001–2011|doi=10.1158/1078-0432.CCR-11-2489|issn=1557-3265|pmid=22338015}}</ref>PMID:22338015; <ref name=":22">{{Cite journal|last=Gojo|first=Johannes|last2=Lötsch|first2=Daniela|last3=Spiegl-Kreinecker|first3=Sabine|last4=Pajtler|first4=Kristian W.|last5=Neumayer|first5=Katharina|last6=Korbel|first6=Pia|last7=Araki|first7=Asuka|last8=Brandstetter|first8=Anita|last9=Mohr|first9=Thomas|date=2017-09-01|title=Telomerase activation in posterior fossa group A ependymomas is associated with dismal prognosis and chromosome 1q gain|url=https://pubmed.ncbi.nlm.nih.gov/28371821|journal=Neuro-Oncology|volume=19|issue=9|pages=1183–1194|doi=10.1093/neuonc/nox027|issn=1523-5866|pmc=5570194|pmid=28371821}}</ref>PMID:28371821

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|Favorable prognosis

|WHO CNS Tumors (2016) <br>

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<ref name=":20">{{Cite journal|last=Yao|first=Yuan|last2=Mack|first2=Stephen C.|last3=Taylor|first3=Michael D.|date=2011-10|title=Molecular genetics of ependymoma|url=https://pubmed.ncbi.nlm.nih.gov/21959044|journal=Chinese Journal of Cancer|volume=30|issue=10|pages=669–681|doi=10.5732/cjc.011.10129|issn=1000-467X|pmc=4012267|pmid=21959044}}</ref>PMID:21959044; PMID:21840481<br>

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<ref name=":20">{{Cite journal|last=Yao|first=Yuan|last2=Mack|first2=Stephen C.|last3=Taylor|first3=Michael D.|date=2011-10|title=Molecular genetics of ependymoma|url=https://pubmed.ncbi.nlm.nih.gov/21959044|journal=Chinese Journal of Cancer|volume=30|issue=10|pages=669–681|doi=10.5732/cjc.011.10129|issn=1000-467X|pmc=4012267|pmid=21959044}}</ref>PMID:21959044; <ref name=":23">{{Cite journal|last=Witt|first=Hendrik|last2=Mack|first2=Stephen C.|last3=Ryzhova|first3=Marina|last4=Bender|first4=Sebastian|last5=Sill|first5=Martin|last6=Isserlin|first6=Ruth|last7=Benner|first7=Axel|last8=Hielscher|first8=Thomas|last9=Milde|first9=Till|date=2011-08-16|title=Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma|url=https://pubmed.ncbi.nlm.nih.gov/21840481|journal=Cancer Cell|volume=20|issue=2|pages=143–157|doi=10.1016/j.ccr.2011.07.007|issn=1878-3686|pmc=4154494|pmid=21840481}}</ref>PMID:21840481<br>

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|'''Mutation:''' NF2 (including germline) in spinal tumors

|Less common but more aggressive in children

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|<ref name=":16" />PMID:25965575; PMCID:3991130; PMID:20425037; PMID:25957288; <ref name=":19" />PMID:22516549

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|<ref name=":16" />PMID:25965575; <ref name=":24">{{Cite journal|last=Zadnik|first=Patricia L.|last2=Gokaslan|first2=Ziya L.|last3=Burger|first3=Peter C.|last4=Bettegowda|first4=Chetan|date=2013-5|title=Spinal cord tumours: advances in genetics and their implications for treatment|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991130/|journal=Nature reviews. Neurology|volume=9|issue=5|pages=257–266|doi=10.1038/nrneurol.2013.48|issn=1759-4758|pmc=3991130|pmid=23528542}}</ref>PMCID:3991130; <ref name=":25">{{Cite journal|last=Dubuc|first=Adrian M.|last2=Northcott|first2=Paul A.|last3=Mack|first3=Stephen|last4=Witt|first4=Hendrik|last5=Pfister|first5=Stefan|last6=Taylor|first6=Michael D.|date=2010-05|title=The genetics of pediatric brain tumors|url=https://pubmed.ncbi.nlm.nih.gov/20425037|journal=Current Neurology and Neuroscience Reports|volume=10|issue=3|pages=215–223|doi=10.1007/s11910-010-0103-9|issn=1534-6293|pmid=20425037}}</ref>PMID:20425037; <ref name=":26">{{Cite journal|last=Mack|first=Stephen C.|last2=Agnihotri|first2=Sameer|last3=Bertrand|first3=Kelsey C.|last4=Wang|first4=Xin|last5=Shih|first5=David J.|last6=Witt|first6=Hendrik|last7=Hill|first7=Nadia|last8=Zayne|first8=Kory|last9=Barszczyk|first9=Mark|date=2015-08-15|title=Spinal Myxopapillary Ependymomas Demonstrate a Warburg Phenotype|url=https://pubmed.ncbi.nlm.nih.gov/25957288|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=21|issue=16|pages=3750–3758|doi=10.1158/1078-0432.CCR-14-2650|issn=1557-3265|pmc=4537825|pmid=25957288}}</ref>PMID:25957288; <ref name=":19" />PMID:22516549

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'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)

|Unfavorable prognosis; occur in infants or children

−

|<ref name=":16" />PMID:25965575; PMID:24553141; PMID:28371821

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|<ref name=":16" />PMID:25965575; <ref name=":27">{{Cite journal|last=Parker|first=Matthew|last2=Mohankumar|first2=Kumarasamypet M.|last3=Punchihewa|first3=Chandanamali|last4=Weinlich|first4=Ricardo|last5=Dalton|first5=James D.|last6=Li|first6=Yongjin|last7=Lee|first7=Ryan|last8=Tatevossian|first8=Ruth G.|last9=Phoenix|first9=Timothy N.|date=2014-02-27|title=C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma|url=https://pubmed.ncbi.nlm.nih.gov/24553141|journal=Nature|volume=506|issue=7489|pages=451–455|doi=10.1038/nature13109|issn=1476-4687|pmc=4050669|pmid=24553141}}</ref>PMID:24553141; <ref name=":22" />PMID:28371821

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'''Mutation:''' NF2 (esp. in spinal tumors)

|Usually intracranial, spinal tumors (myxopapillary) are rare; 80% of pediatric tumors develop in posterior fossa (PF); Supratentorial tumors preferentially show monosomy 9; 1q gain is unfavorable prognostic indicator in PF tumors; spinal tumors associated with NF2 mutation (germline)

−

|<ref name=":16" />PMID:25965575; PMID:22338015; PMID:28371821

+

|<ref name=":16" />PMID:25965575; <ref name=":21" />PMID:22338015; <ref name=":22" />PMID:28371821

|-

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|Favorable prognosis

|WHO CNS Tumors (2016)<br>

−

<ref name=":20" />PMID:21959044; PMID:21840481

+

<ref name=":20" />PMID:21959044; <ref name=":23" />PMID:21840481

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|'''Mutation:''' NF2 (including germline) in spinal tumors

|More common in adults

−

|<ref name=":16" />PMID:25965575; PMCID:3991130; PMID:20425037 PMID:25957288; <ref name=":19" />PMID:22516549

+

|<ref name=":16" />PMID:25965575; <ref name=":24" />PMCID:3991130; <ref name=":25" />PMID:20425037 <ref name=":26" />PMID:25957288; <ref name=":19" />PMID:22516549

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'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)

|Unfavorable prognosis

−

|<ref name=":16" />PMID:25965575; PMID:24553141; PMID:28371821

+

|<ref name=":16" />PMID:25965575; <ref name=":27" />PMID:24553141; <ref name=":22" />PMID:28371821

|-

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Kilannin.Krysiak

Editors

121

edits