DIS3
Overview
DIS3 encodes a catalytic exoribonuclease subunit of the RNA exosome. It is a known multiple myeloma driver and has been newly nominated as a candidate driver in chronic lymphocytic leukemia.
Alterations observed in the corpus
- Novel CLL driver nominated via 3-D (CLUMPS) clustering; 2 of 4 sites fall at cancer hotspots D479/D488 in the catalytic domain PMID:35927489.
- Included among six additional drivers (with MAP2K2 and DICER1) discovered by 3-D structural clustering that recurrent-gene tests alone missed PMID:35927489.
- Exonuclease recurrently mutated in 11% of multiple myeloma (MM) patients; point mutations plus LOH; enriched in non-hyperdiploid versus hyperdiploid MM (Fisher’s exact p=0.00013); often co-clonal with KRAS mutations, suggesting cooperative early-event biology; one of 11 significantly mutated genes (q<0.1) in MM PMID:24434212
- DIS3 identified as a low-frequency hit in PDTC/ATC thyroid cancer targeted sequencing (>=2 ATC or >=3 PDTC cases, IMPACT 341-gene panel, 117 tumors) PMID:26878173
Cancer types (linked)
- CLLSLL — novel candidate driver in the 1,148-patient CLL map; functional validation deferred to future work PMID:35927489.
Co-occurrence and mutual exclusivity
- Not reported in the corpus.
Therapeutic relevance
- Not reported in the corpus.
Open questions
- Functional validation of DIS3 as a CLL driver is explicitly deferred PMID:35927489.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:24434212
This page was processed by crosslinker on 2026-05-09. - PMID:26878173
This page was processed by entity-page-writer on 2026-05-15.