MYH11

Overview

MYH11 (Myosin Heavy Chain 11) encodes a smooth muscle myosin heavy chain. In AML, MYH11 is the fusion partner of CBFB in the inv(16)(p13q22) rearrangement, producing the CBFB–MYH11 fusion oncogene. This fusion disrupts core binding factor (CBF) transcription, causing a block in myeloid differentiation. CBFB–MYH11 defines AML with inv(16), a favorable-risk cytogenetic subtype.

Alterations observed in the corpus

MYH11–CBFB fusion identified as a recurrent in-frame transcription-factor fusion in 200 adult de novo AML cases (TCGA AML cohort); CBFB–MYH11-fused samples (favorable-risk) had mean 3.25 cooperating tier-1 mutations vs 5.24 overall, though the exact P-value for CBFB–MYH11 specifically is not stated separately from PML–RARA in the paper PMID:23634996
MYH11–CBFB is mutually exclusive of NPM1 and DNMT3A mutations (P<0.04) as part of the transcription-factor fusion mutual-exclusivity set in AML PMID:23634996
CBFB-MYH11 inv(16)/t(16;16) fusion in 5% (n=81) of AML; class-defining favorable event with HR 0.3 (0.2–0.4) for overall survival PMID:27276561
CBFB–MYH11 fusion detected in pediatric AML; prognostic marker for low-risk stratification in a pediatric precision-oncology cohort PMID:28007021
MYH11 mRNA expression was among the highest in leiomyosarcoma (LMS) relative to other sarcoma subtypes (all p<5e-39), reflecting the myogenic differentiation program characteristic of LMS; it was a key discriminator between LMS and other sarcoma types in iCluster analysis PMID:29100075
Partner gene in the CBFB-MYH11 fusion, a classic recurrent leukemic fusion recovered in LAML fusion-only tumors; strongly associated with decreased CBFB (TSG/transcriptional regulator) expression — an alternative CBFB inactivation mechanism distinct from point mutation. PMID:29617662

Cancer types (linked)

AML (Acute Myeloid Leukemia): CBFB–MYH11 (inv16) defines the favorable-risk core-binding-factor AML subtype; mutually exclusive of NPM1, DNMT3A, and other transcription-factor mutations PMID:23634996

Co-occurrence and mutual exclusivity

Mutually exclusive of NPM1, DNMT3A, PML–RARA, and RUNX1–RUNX1T1 as part of the Dendrix++ mutual-exclusivity set A in AML PMID:23634996

Therapeutic relevance

CBFB–MYH11 (inv16) AML has favorable prognosis and is typically treated with high-dose cytarabine consolidation; no novel targeted therapy data reported in this study PMID:23634996

Open questions

The cooperating mutations in CBFB–MYH11 AML beyond KIT mutations (which are known to co-occur) were not individually enumerated in this dataset PMID:23634996

Sources

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