KMT2B
Overview
KMT2B (MLL4) is a histone H3K4 methyltransferase and transcriptional co-activator. In endometrial carcinoma, KMT2B mutations are enriched in CN-H/TP53abn tumors and carcinosarcomas, with notable racial disparities in mutation frequency.
Alterations observed in the corpus
- KMT2B mutations are enriched in CN-H/TP53abn endometrial carcinomas from Black patients (16% vs 8%) and carcinosarcomas from Black patients (31% vs 10%) in a study comparing molecular features of EC in 259 Black vs 1,276 White patients profiled by MSK-IMPACT PMID:37651310.
- KMT2B is listed among recurrently mutated genes in the HCC WES landscape (n=1,289), part of the chromatin-modifier/epigenetic regulator gene set in hepatocellular carcinoma. PMID:24798001
Cancer types (linked)
- UCEC — KMT2B mutations enriched in CN-H/TP53abn and carcinosarcoma subtypes in Black EC patients; contributes to the differential genomic landscape across racial groups PMID:37651310.
Co-occurrence and mutual exclusivity
- Enriched in the CN-H/TP53abn subtype alongside TP53 mutations and CCNE1 amplification in Black EC patients PMID:37651310.
Therapeutic relevance
- KMT2B mutations as chromatin regulators may have implications for epigenetic therapy approaches; no specific KMT2B-directed therapy evaluated in this corpus PMID:37651310.
Open questions
- The mechanistic basis for enrichment of KMT2B mutations in CN-H/TP53abn EC specifically in Black patients, and whether this reflects ancestral genomic variation or other factors, is unresolved PMID:37651310.
Sources
This page was processed by entity-page-writer on 2026-05-11. - PMID:24798001
This page was processed by entity-page-writer on 2026-05-11.