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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 13:30, 15 April 2021
, 13:30, 15 April 2021updated citation
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is of questionable relevance; Prognostic differences among tumors suggested on the basis of methylation analysis
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is of questionable relevance; Prognostic differences among tumors suggested on the basis of methylation analysis
|WHO CNS Tumors (2016)<br>
|WHO CNS Tumors (2016)<br>
PMID:25965575; PMID:21627842; PMID:24939246; PMID:22516549
<ref name=":16">{{Cite journal|last=Pajtler|first=Kristian W.|last2=Witt|first2=Hendrik|last3=Sill|first3=Martin|last4=Jones|first4=David T. W.|last5=Hovestadt|first5=Volker|last6=Kratochwil|first6=Fabian|last7=Wani|first7=Khalida|last8=Tatevossian|first8=Ruth|last9=Punchihewa|first9=Chandanamali|date=2015-05-11|title=Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups|url=https://pubmed.ncbi.nlm.nih.gov/25965575|journal=Cancer Cell|volume=27|issue=5|pages=728–743|doi=10.1016/j.ccell.2015.04.002|issn=1878-3686|pmc=4712639|pmid=25965575}}</ref>PMID:25965575; <ref name=":17">{{Cite journal|last=Ellison|first=David W.|last2=Kocak|first2=Mehmet|last3=Figarella-Branger|first3=Dominique|last4=Felice|first4=Giangaspero|last5=Catherine|first5=Godfraind|last6=Pietsch|first6=Torsten|last7=Frappaz|first7=Didier|last8=Massimino|first8=Maura|last9=Grill|first9=Jacques|date=2011-05-31|title=Histopathological grading of pediatric ependymoma: reproducibility and clinical relevance in European trial cohorts|url=https://pubmed.ncbi.nlm.nih.gov/21627842|journal=Journal of Negative Results in Biomedicine|volume=10|pages=7|doi=10.1186/1477-5751-10-7|issn=1477-5751|pmc=3117833|pmid=21627842}}</ref>PMID:21627842; <ref name=":18">{{Cite journal|last=Olsen|first=Thale Kristin|last2=Gorunova|first2=Ludmila|last3=Meling|first3=Torstein R.|last4=Micci|first4=Francesca|last5=Scheie|first5=David|last6=Due-Tønnessen|first6=Bernt|last7=Heim|first7=Sverre|last8=Brandal|first8=Petter|date=2014-08|title=Genomic characterization of ependymomas reveals 6q loss as the most common aberration|url=https://pubmed.ncbi.nlm.nih.gov/24939246|journal=Oncology Reports|volume=32|issue=2|pages=483–490|doi=10.3892/or.2014.3271|issn=1791-2431|pmc=4091878|pmid=24939246}}</ref>PMID:24939246; <ref name=":19">{{Cite journal|last=Yang|first=Isaac|last2=Nagasawa|first2=Daniel T.|last3=Kim|first3=Won|last4=Spasic|first4=Marko|last5=Trang|first5=Andy|last6=Lu|first6=Daniel C.|last7=Martin|first7=Neil A.|date=2012-06|title=Chromosomal anomalies and prognostic markers for intracranial and spinal ependymomas|url=https://pubmed.ncbi.nlm.nih.gov/22516549|journal=Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia|volume=19|issue=6|pages=779–785|doi=10.1016/j.jocn.2011.11.004|issn=1532-2653|pmc=3615711|pmid=22516549}}</ref>PMID:22516549
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'''Loss:''' 1p, 3, -6/6q, 9p, 13q, 17, 22
'''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
|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
|PMID:25965575; PMID:22338015; PMID:28371821
|<ref name=":16" />PMID:25965575; PMID:22338015; PMID:28371821
|-
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|Favorable prognosis
|Favorable prognosis
|WHO CNS Tumors (2016) <br>
|WHO CNS Tumors (2016) <br>
PMID:21959044; PMID:21840481<br>
<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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|'''Mutation:''' NF2 (including germline) in spinal tumors
|'''Mutation:''' NF2 (including germline) in spinal tumors
|Less common but more aggressive in children
|Less common but more aggressive in children
|PMID:25965575; PMCID:3991130; PMID:20425037; PMID:25957288; PMID:25965575; PMID:22516549
|<ref name=":16" />PMID:25965575; PMCID:3991130; PMID:20425037; PMID:25957288; <ref name=":19" />PMID:22516549
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'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)
'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)
|Unfavorable prognosis; occur in infants or children
|Unfavorable prognosis; occur in infants or children
|PMID:25965575; PMID:24553141; PMID:28371821
|<ref name=":16" />PMID:25965575; PMID:24553141; PMID:28371821
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'''Fusion:''' RELA fusions, YAP1 fusions can correspond to anaplastic histology
'''Fusion:''' RELA fusions, YAP1 fusions can correspond to anaplastic histology
|Mostly intracranial tumors, rarely in spinal cord; YAP1 fusion tumors can occur in infants
|Mostly intracranial tumors, rarely in spinal cord; YAP1 fusion tumors can occur in infants
|PMID: 25965575
|<ref name=":16" />PMID: 25965575
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|-
|'''EMBRYONAL TUMORS'''
|'''EMBRYONAL TUMORS'''
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is not reliable; Prognostic differences among tumors suggested on the basis of methylation analysis
|Intracranial (in children, 90%) or spinal tumors; Histological distinction between WHO grade II and III is not reliable; Prognostic differences among tumors suggested on the basis of methylation analysis
|WHO CNS Tumors (2016)<br>
|WHO CNS Tumors (2016)<br>
PMID:25965575; PMID:21627842; PMID:24939246; PMID:22516549
<ref name=":16" />PMID:25965575; <ref name=":17" />PMID:21627842; <ref name=":18" />PMID:24939246; <ref name=":19" />PMID:22516549
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'''Mutation:''' NF2 (esp. in spinal tumors)
'''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)
|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)
|PMID:25965575; PMID:22338015; PMID:28371821
|<ref name=":16" />PMID:25965575; PMID:22338015; PMID:28371821
|-
|-
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|Favorable prognosis
|Favorable prognosis
|WHO CNS Tumors (2016)<br>
|WHO CNS Tumors (2016)<br>
PMID:21959044; PMID:21840481
<ref name=":20" />PMID:21959044; PMID:21840481
|-
|-
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|'''Mutation:''' NF2 (including germline) in spinal tumors
|'''Mutation:''' NF2 (including germline) in spinal tumors
|More common in adults
|More common in adults
|PMID:25965575; PMCID:3991130; PMID:20425037 PMID:25957288; PMID:25965575; PMID:22516549
|<ref name=":16" />PMID:25965575; PMCID:3991130; PMID:20425037 PMID:25957288; <ref name=":19" />PMID:22516549
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'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)
'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)
|Unfavorable prognosis
|Unfavorable prognosis
|PMID:25965575; PMID:24553141; PMID:28371821
|<ref name=":16" />PMID:25965575; PMID:24553141; PMID:28371821
|-
|-
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'''Fusion:''' RELA fusions, YAP1 fusions can correspond to anaplastic histology
'''Fusion:''' RELA fusions, YAP1 fusions can correspond to anaplastic histology
|Mostly intracranial tumors, rarely in spinal cord
|Mostly intracranial tumors, rarely in spinal cord
|PMID: 25965575; PMID:27022130
|<ref name=":16" />PMID: 25965575; PMID:27022130
|}
|}
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