Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray: Difference between revisions
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| GLIOMAS | |'''GLIOMAS''' | ||
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|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 | |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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|Atypical teratoid/rhabdoid tumor (AT/RT) | |||
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|'''Loss:''' 22/22q, though a subset of AT/RT-like tumors retain 22q | |||
|Classic AT/RT: SMARCB1 mutation/deletion/exonic duplication in 98% of tumors<br> | |||
AT/RT-like tumors: SMARCB1 can be retained (with SMARCA4 mutations)<br> | |||
'''Three molecular classes:'''<br> | |||
'''TYR:''' ~ 75% show broad 22q loss that includes SMARCB1<br> | |||
'''SHH:''' ~ 50% lack any SMARCB1 mutation; ~ 25% have focal SMARCB1 aberrations<br> | |||
'''MYC:''' ~ 75% show focal SMARCB1 loss | |||
|Most cases occur before 3 yrs of age<br> | |||
TYR subclass: mostly infratentorial<br> | |||
SHH subclass: supra/infratentorial<br> | |||
MYC subclass: mostly supratentorial | |||
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|Embryonal tumor with multilayered rosettes, C19MC-altered | |||
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|'''ETMR (incl. ETANTR):''' occasionally polysomy 2 | |||
|'''ETANTR:''' miRNA cluster C19MC amplification | |||
|Occurs mainly in children < 4 yrs old | |||
| WHO CNS Tumors (2016)<br> | |||
PMID:24839957; PMID:24470553 PMID:24337497; PMID:22324795 PMID:20407781, PMID:19057917 | |||
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|Embryonal tumor, other | |||
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|'''CNS NB-FOXR2 group:''' 1q gain, 16q loss, polysomy 8<br> | |||
'''CNS EFT-CIC group:''' polysomy 8<br> | |||
'''CNS HGNET-MN1 group:''' 16q loss, polysomy 8<br> | |||
'''CNS HGNET-BCOR group:''' mostly balanced genomes | |||
|'''CNS NB-FOXR2 group:''' JMJD1C fusions, FOXR2 fusion or deletion<br> | |||
'''CNS EFT-CIC group:''' NUTM1 rearrangement/fusion, CIC rearrangement<br> | |||
'''CNS HGNET-MN1 group:''' MN1 rearrangement <br> | |||
'''CNS HGNET-BCOR group:''' BCOR intragenic tandem duplication | |||
|Most common in children, but may also occur in adolescents and adults | |||
|WHO CNS Tumors (2016)<br> | |||
PMID:26919435; PMID:22691720; PMID:22772606 | |||
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|'''CHOROID PLEXUS TUMORS (CPT)''' | |||
|Choroid plexus papilloma(CPP, WHO grade I) and atypical choroid plexus papilloma (WHO grade II) | |||
|'''Hyperdiploidy'''<br> | |||
'''Loss:''' rare, no recurrent losses | |||
|No diagnostic mutations/events | |||
|CPP and aCPP likely belong to same molecularly defined entity; CPP is a diagnostic feature of Aircardi syndrome | |||
|WHO CNS Tumors (2016)<br> | |||
PMID:23172371; PMID:25575132; PMID:25336695 PMID:11891207 | |||
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|Choroid plexus carcinoma (CPC, WHO grade III) | |||
|'''Aneuploidy''' (including both hypo- and hyperdiploidy types of CPC); copy neutral LOH is frequent, particularly involving chromosome 17<br> | |||
'''Gain:''' 1, 7, 12, 20 in > 80% of hyperdiploid CPCs<br> | |||
'''Loss:''' 3 (in all hypodiploid CPC), 6, 11, 12q, 16, 22 | |||
|'''Mutation:''' TP53 in > 50%<br> | |||
'''Amplification:''' PDGFRB | |||
|80% occur in children; associated with Li-Fraumeni syndrome; Lack of SMARCB1/SMARCA4 aberrations can be used to distinguish CPC from AT/RT | |||
|PMID:24478045; PMID:21990040; PMID:25575132; PMID:18157090; PMID:25336695 | |||