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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 09:07, 17 November 2018
, 09:07, 17 November 2018no edit summary
''' Chromothripsis:''' observed
''' Chromothripsis:''' observed
|'''Loss:''' PTEN, RB1, TP53, CDKN2A/B/C
|'''Loss:''' PTEN, RB1, TP53, CDKN2A/B/C
'''Fusions:''' FGFR-TACC; NTRK fusions
'''Fusions:''' FGFR-TACC; NTRK fusions <br>
'''Amplification:''' PDGFRA, MYCN, MET, CDK4, CDK6 (EGFR, MDM2 amp rare)<br>
'''Amplification:''' PDGFRA, MYCN, MET, CDK4, CDK6 (EGFR, MDM2 amp rare)<br>
'''Mutations:''' IDH1/2 (rare in pediatric GBM), KRAS, RAS pathway, RB1 pathway, TP53 pathway, FGFR1, H3.3/H3.1-K27M (exclusively in diffuse midline tumors), PDGFRA, NF1, SETD2, ATRX, DAXX
'''Mutations:''' IDH1/2 (rare in pediatric GBM), KRAS, RAS pathway, RB1 pathway, TP53 pathway, FGFR1, H3.3/H3.1-K27M (exclusively in diffuse midline tumors), PDGFRA, NF1, SETD2, ATRX, DAXX
|Infiltrating Gliomas
|Infiltrating Gliomas
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|-
|Diffuse astrocytoma/anaplastic Astrocytoma, WHO grade II/III, IDH mutant
|'''Gain:''' 4q, 7q, 8q24, 12q<br>
'''Loss:''' 9p, 19q (without 1p)
|'''Gain:''' MYC <br>
'''Loss:''' CDKN2A/B, PML15q22
|Better prognosis than IDH wildtype astrocytoma; Progression to grade IV will often involves loss of 10q, gain of CDK4, CDK6, and cyclin E2, and an increase in copy number alterations.
|PMID:26824661; PMID:26061753; PMID:25263767 PMID:26061754; PMID:28535583; PMID:26091668 PMID: 25701198; PMID:26865861; PMID:29687258
|-
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|Diffuse astrocytoma/anaplastic astrocytoma, WHO grade II/III, IDH wild-type
|'''Gain:''' 7, 19<br>
'''Loss:''' 4, 9p 10<br>
'''Amplification:''' EGFR, MDM4, CDK4
|'''Loss:''' homozygous CDKN2A/B<br>
'''Mutation:''' EGFR, NF1, PTEN<br>
'''Amplification:''' EGFR, MDM4, CDK4
|Poor prognosis with similar abnormalities to glioblastoma
|PMID:26061754; PMID:26824661;PMID:28535583 PMID:26091668; PMID:26810070
|-
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|Oligodendroglioma/anaplastic oligodendroglioma, WHO grade II/III, IDH mutant
|'''Rearrangement:''' der(1;19)(q10;p10) leads to 1p/19q co-deletion<br>
'''Loss:''' 1p/19q, 9p, 14q, less frequent 4, 18q
|'''Gain:''' MYC<br>
'''Loss:''' MAX (14q), FBXW7, CDN2KA/B<br>
'''Mutation:''' FUBP1, CIC, IDH, TERT, NOTCH1, PIK3CA or PIK3R1
|Activation of MYC pathway is often seen with loss of 9p (CDKN2A/B), and 14q (MAX gene) and is reported to have a worse prognosis
|PMID:27090007; PMID:26061753; PMID:25263767 PMID:26061754; PMID:24335697; PMID:25664944;PMID:26061753; PMID:26941959; PMID:26824661 PMID:26061751
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