Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray: Difference between revisions
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|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 | |||