Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray: Difference between revisions
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|Low grade gliomas, WHO grade I-II | |||
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|Pilocytic astrocytoma | |||
|'''Gain:''' 5, 7, 6, 11<br> | |||
'''Loss:''' 1, 2, 3, 13, 14, 16, 17, 19 | |||
|'''Fusion:''' KIAA1549-BRAF fusion (via 3'BRAF duplication), other BRAF partners reported; NTRK fusions (rare)<br> | |||
'''Mutation:''' FGFR1 | |||
|Aneuploidy is more predominant in adult PA; Infratentorial tumors are more likely to have BRAF fusions/dup and be wildtype for BRAF mutations; Extra-cerebellar tumors are more likely to be BRAF V600E+, but negative for fusion; Surgical resection can be curative | |||
|PMID: 24470550; PMID:26378811; PMID: 25664944; PMID:26992069 | |||
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|Pleomorphic xanthoastrocytoma (PXA) | |||
|'''Gain:''' 7, 2, 5, 21, 20, 12, 15<br> | |||
'''Loss:''' monosomy 9 / 9p deletion most common, 22, 14, 13, 10<br> | |||
'''CN-LOH:''' 9p, 22 | |||
|'''Loss:''' homozygous loss CDKN2A/B<br> | |||
Mutation: BRAF V600E | |||
|Adults and pediatric tumors show similar CNVs; CDKN2A/CDKN2B loss may correlate with anaplastic histology | |||
|PMID:23442159; PMID:28181325 | |||