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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 09:28, 17 November 2018
, 09:28, 17 November 2018no edit summary
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|Grade 1
|Grade 1
|No copy number changes in 44%<br>
'''Gain:''' multiple polysomies, 5<br>
'''Loss:''' 22/22q- common as sole aberration <br>
'''CN-LOH:''' 1p, 14q
|'''Loss:''' NF2, CDKN2A, PTEN<br>
'''Mutation:''' NF2, PI3K, SMO, AKT1, KLF4, TRAF7, TERT, ARID1A
|Array findings characteristic of higher grade tumors when histology supports lower grade may suggest increased likelihood of recurrence. Polysomy, particularly involving chromosome 5, are seen in angiomatous meningiomas. LOH 1p and/or LOH 1p/14q correlated with anaplastic transformation.
|PMID:23528542; PMID:27575681; PMID:20015288 PMID:21988727; PMID19918127; PMID:25347344 PMID:23334667; PMID:25963524; PMID:26826201 PMID:28195122; PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:25347344; PMID:17225936
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|Grade 2 atypical
|'''Gain:''' 1q, 9q, 12q, 15q, 17q, 20q<br>
'''Loss:''' 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p, 18/18q, 19q, 22/loss 22q
|'''Loss:''' NF2, CDKN2A, PTEN<br>
'''Mutation:''' NF2, CDKN2A/C, SMARCE1, SMARCB1, TERT
|Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|PMID:23528542; PMID:27575681; PMID:20015288 PMID:21988727; PMID19918127; PMID:25347344 PMID:23334667; PMID:25963524; PMID:26826201 PMID:28195122; PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:25347344; PMID:17225936
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|Grade 3 anaplastic
|'''Gain:''' 1q, 9q, 12q, 15q, 17q23, 20q <br>
'''Loss:''' 1p, 3p, 6q, 7p, 14/14q, 9p, 10, 11p,18/18q,19q,22/loss 22q
|'''Loss:''' NF2, CDKN2A, PTEN<br>
'''Mutation:''' NF2, CDKN2A/C, TERT<br>
'''Amplification:''' RPS6K in higher grades, 17q23
|Loss of 9p and amplification or gain of 17q23 are more frequent than other abnormalities. Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|PMID:23528542; PMID:27575681; PMID:20015288 PMID:21988727; PMID19918127; PMID:25347344 PMID:23334667; PMID:25963524; PMID:26826201 PMID:28195122; PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:25347344; PMID:17225936
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|'''EPENDYMOMA'''<br>
(in order of increasing WHO grade)
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|'''DNA-based methylation classifies''' tumors across anatomical sites --- intracranial (posterior fossa or supratentorial) or spinal --- and across tumor grades and age groups
|'''Fusion:''' YAP1 fusions (supratentorial tumors)<br>
'''Mutation:''' NF2 (spinal tumors)<br>
'''Loss:''' CDKN2A
|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>
PMID:25965575; PMID:21627842; PMID:24939246; PMID:22516549
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