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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 10:15, 16 November 2018
, 10:15, 16 November 2018no edit summary
|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
|PMID:25965575; PMCID:3991130; PMID:20425037; PMID:25957288; PMID:25965575; PMID:22516549
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|Ependymoma, RELA fusion-positive, WHO grade II or III
|'''Gain:''' 1q<br>
'''Aneuploidy:''' multiple chromosomes lost and gained<br>
'''Chromothripsis:''' chromosome 11 (70% of supratentorial tumors)
|'''Fusion:''' c11orf95-RELA (supratentorial tumors)<br>
'''Loss:''' CDKN2A/B (may help distinguish from other supratentorial ependymomas)
|Unfavorable prognosis; occur in infants or children
|PMID:25965575; PMID:24553141; PMID:28371821
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|Anaplastic ependymoma (no WHO grade assigned)
|Epigenetic studies suggest range of abnormalities: balanced or unbalanced genomes
|'''Mutation:''' NF2 (including germline) in spinal tumors<br>
'''Fusion:''' RELA fusions, YAP1 fusions can correspond to anaplastic histology
|Mostly intracranial tumors, rarely in spinal cord; YAP1 fusion tumors can occur in infants
|PMID: 25965575
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|'''EMBRYONAL TUMORS'''
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|WHO CNS Tumors (2016)
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|Medulloblastoma
|WNT-activated
|'''Loss:''' monosomy 6/6q- as sole finding in 85%
|'''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
|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
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|SHH-activated
|'''Gain:''' 3q<br>
'''Loss:''' 9q, 10q, 17p<br>
'''Ploidy changes:''' Tetraploidy associated with chromothripsis and TP53 mutations<br>
'''Chromothripsis:''' associated with TP53 mutation
|'''Mutation:'''<br>
'''TP53 wild-type tumors:''' PTCH1 (germline mutations in Gorlin syndrome), SMO, SUFU (can be germline), TERT promoter<br>
'''TP53-mutant tumors:''' can be germline<br>
'''Loss:''' PTCH1, PTEN<br>
'''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
|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
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