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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 10:25, 16 November 2018
, 10:25, 16 November 2018no edit summary
! REFERENCES
! REFERENCES
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| GLIOMAS
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|WHO CNS Tumors (2016)
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| Low grade glioma, WHO grade I
| Low grade glioma, WHO grade I
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|Group3
|'''Gain:''' 1q, 7, 18q<br>
'''Loss:''' 5q, 8, 10q, 11p, 16q<br>
'''Rearrangement:''' idic(17)(p11.2)<br>
'''Ploidy changes:''' tetraploidy in 40-50% of Group3/Group4 tumors
|'''Mutation/Amplification:''' MYC (mainly in infants), OTX2, CDK6, SMARC4A, CTDNEP1, LRP1B, KMT2D<br>
'''Fusions:''' PVT1-MYC, PVT1-NDRG1; GFI1/GFI1B structural variants
|Usually classic histology, ~ 50% are metastatic at time of diagnosis, Not generally observed in adults
|PMID:22832581, PMID:25043047; PMID:24493713 PMID:23175120; 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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|Group4
|'''Gain:''' 7, 18q<br>
'''Loss:''' X, 8, 11p<br>
'''Rearrangement:''' idic(17)(p11.2) in >80%<br>
'''Chromothripsis:''' rare, but associated with TP53 loss when observed
|'''Mutation:''' TP53, KDM6A, KMT2C <br>
'''Amplification:''' MYCN, CDK4, CDK6, OTX2<br>
'''Rearrangement:''' SNCAIP tandem duplication; GFI1/GFI1B structural variants
|Rarely seen in infants; usually classic histology
|PMID:22832581; PMID:25043047; PMID:24493713 PMID:23175120; 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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