Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray: Difference between revisions
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| Ganglioglioma | | Ganglioglioma | ||
| Only 30% are abnormal by karyotype '''Gain:''' polysomy 7 | | Only 30% are abnormal by karyotype <br> | ||
'''Gain:''' polysomy 7 | |||
| '''Mutations:''' BRAF V600E in 20-60% of cases (can be concurrent with CDKN2A homozygous deletion)<br> | | '''Mutations:''' BRAF V600E in 20-60% of cases (can be concurrent with CDKN2A homozygous deletion)<br> | ||
'''Fusions:''' KIAA1549-BRAF | '''Fusions:''' KIAA1549-BRAF | ||
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| Pleomorphic xanthoastrocytoma (PXA) | | Pleomorphic xanthoastrocytoma (PXA) | ||
| Polysomy 3, polysomy 7 observed | | Polysomy 3, polysomy 7 observed<br> | ||
'''Loss:''' monosomy 9 / 9p deletion | |||
| '''Mutations:''' BRAF V600E in ~60%; TP53 (5%)<br> | | '''Mutations:''' BRAF V600E in ~60%; TP53 (5%)<br> | ||
'''Loss:''' CDKN2A/CDKN2B | '''Loss:''' CDKN2A/CDKN2B | ||
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|IDH-mutant | |IDH-mutant | ||
|'''Gain:''' 1q, 2q, 3q, 7, 16p, 17q, 21q<br> | |'''Gain:''' 1q, 2q, 3q, 7, 16p, 17q, 21q<br> | ||
'''Loss:''' 6q, 8q, 9p, 9q, 10q, 13q, 17p, 22q | '''Loss:''' 6q, 8q, 9p, 9q, 10q, 13q, 17p, 22q<br> | ||
''' Chromothripsis:''' observed | ''' Chromothripsis:''' observed | ||
|'''Loss:''' PTEN, RB1, TP53, CDKN2A/B/C | |'''Loss:''' PTEN, RB1, TP53, CDKN2A/B/C | ||