RUNX1

Overview

RUNX1 encodes a master hematopoietic transcription factor; germline and somatic mutations are recurrent across myeloid malignancies and confer hematologic malignancy risk in clonal hematopoiesis.

Alterations observed in the corpus

  • RUNX1 was identified as a high-risk clonal hematopoiesis (CH) genotype conferring particularly high risk of subsequent hematologic malignancy in 42,714 MSK patients with nonhematologic cancer profiled by MSK-IMPACT matched-normal sequencing PMID:38147626.
  • RUNX1 is recurrently mutated in MDS (myelodysplastic syndromes), co-occurring with STAG2 mutations in the Tokyo cohort PMID:21909114
  • Homozygous deletion in 2 cases of breast cancer (Broad WES, 103 tumors); partner of CBFB in transcription factor complex; CBFB/RUNX1 inactivation highlights role of differentiation transcription factors in breast cancer PMID:22722202
  • Identified as a significantly mutated gene in TCGA breast cancer cohort (510 tumors); RUNX1 encodes a transcription factor recurrently mutated across multiple cancer types PMID:23000897
  • RUNX1 is a recurrent driver in AML, mutually exclusive of FLT3 and NPM1, with allelic expression bias observed; associated with transcription-factor-fusion and favorable-risk AML grouping (RUNX1-RUNX1T1 fusion) PMID:23634996
  • Mutated in 2/21 sequenced sinonasal adenoid cystic carcinomas (AdCC; 9%); frameshift duplications/deletions detected; chromatin-regulatory context alongside EP300, KDM6A, and BCOR mutations PMID:24418857
  • ILC-enriched mutations (10% ILC vs 3% IDC, all-comers) in TCGA/METABRIC integrated analysis of invasive lobular carcinoma PMID:26451490
  • Identified as a Mut-driver transcription factor in the METABRIC 2,433-tumor breast cancer cohort; co-mutation with CDH1 is characteristic of invasive lobular carcinoma biology (CDH1 co-mutated with PIK3CA, TBX3, RUNX1, and ERBB2; OR=5.7 for CDH1+ERBB2 co-mutation). PMID:27161491
  • RUNX1 is a transcription factor in the chromatin-spliceosome AML subgroup; the RUNX1-RUNX1T1 t(8;21) fusion defines a favorable subgroup (4%, n=60); authors recommend RUNX1 evaluation at diagnosis PMID:27276561.
  • Listed among genes implicated in age-related clonal hematopoiesis; appeared in context of rising nonleukemic clones during decitabine therapy in TP53-mutant AML/MDS, though not specifically assayed in remission samples PMID:27959731
  • Germline heterozygous splice-site c.806-2A>G in AML — diagnostic of familial platelet disorder; HLA-matched sibling and father carried the same variant, prompting selection of an unrelated donor for bone-marrow transplant PMID:28007021
  • RUNX1 deletion higher in esophageal adenocarcinoma (EAC) vs CIN gastric cancer in a multi-platform genomic study of gastroesophageal adenocarcinoma PMID:28052061

Cancer types (linked)

  • Clonal hematopoiesis in patients with nonhematologic cancer — RUNX1-mutant CH anticipates progression to hematologic malignancy PMID:38147626.

Co-occurrence and mutual exclusivity

  • Not specifically reported in the corpus.

Therapeutic relevance

  • RUNX1-mutant CH may warrant closer hematologic surveillance in solid-tumor patients PMID:38147626.

Open questions

  • None flagged in the corpus.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:21909114

This page was processed by crosslinker on 2026-05-14. - PMID:22722202

This page was processed by crosslinker on 2026-05-14. - PMID:23000897

This page was processed by crosslinker on 2026-05-14. - PMID:23634996

This page was processed by crosslinker on 2026-05-14. - PMID:24418857

This page was processed by crosslinker on 2026-05-14. - PMID:26451490

This page was processed by crosslinker on 2026-05-14. - PMID:27161491

This page was processed by entity-page-writer on 2026-05-15. - PMID:27276561

This page was processed by entity-page-writer on 2026-05-15. - PMID:27959731

This page was processed by entity-page-writer on 2026-05-15. - PMID:28007021

This page was processed by wiki-cli on 2026-05-14. - PMID:28052061

This page was processed by wiki-cli on 2026-05-14.