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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 09:48, 17 November 2018
, 09:48, 17 November 2018no edit summary
|PMID:27090007; PMID:26061753; PMID:25263767 PMID:26061754; PMID:24335697; PMID:25664944;PMID:26061753; PMID:26941959; PMID:26824661 PMID:26061751
|PMID:27090007; PMID:26061753; PMID:25263767 PMID:26061754; PMID:24335697; PMID:25664944;PMID:26061753; PMID:26941959; PMID:26824661 PMID:26061751
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|Glioblastoma , grade IV, IDH mutant
|Glioblastoma , grade IV, IDH mutant
|'''Gain:''' 1/1q, 6p<br>
|'''Gain:''' 1/1q, 6p<br>
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|Classic ependymoma (no WHO grade assigned)
|'''Gain:''' 1q, 5, 7, 9, 11, 18, 20<br>
'''Loss:''' 1p, 3, -6/6q, 9p, 13q, 17, 22
|'''Loss:''' CDKN2A/CDKN2B (rare); NF2<br>
'''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)
|PMID:25965575; PMID:22338015; PMID:28371821
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|Subependymoma, WHO grade I <br>
(intracranial or spinal)
|Typically '''balanced genomes'''<br>
'''Loss:''' -6/6q in spinal tumors
|No diagnostic mutations
|Favorable prognosis
|WHO CNS Tumors (2016)<br>
PMID:21959044; PMID:21840481
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|Myxopapillary ependymoma, WHO grade I (spinal)
|'''Aneuploidy:''' multiple chromosomes lost and gained
|'''Mutation:''' NF2 (including germline) in spinal tumors
|More common in adults
|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<br>
(intracranial)
|'''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
|PMID:25965575; PMID:24553141; PMID:28371821
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|Anaplastic ependymoma (no WHO grade assigned; intracranial or spinal)
|'''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
|PMID: 25965575; PMID:27022130