ArticleBMC cancer2026
Impact of RUNX1 mutations at distinct sites on the clinical characteristics and prognosis of patients with acute myeloid leukemia.
Article in BMC cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAcute myeloid leukemia (AML) patients with Runt-related transcription factor 1 (RUNX1) mutations are categorized into the adverse-risk group with poor prognosis. However, the impact of RUNX1 mutations at distinct sites on clinical characteristics, chemosensitivity, and prognosis in AML remains incompletely defined. This study aims to elucidate this impact thereby furnishing robust evidence to refine precision therapeutic strategies for individuals harboring RUNX1-mutant AML.
methodsIn this study, 92 AML patients harboring RUNX1 mutation, were enrolled and stratified into five groups based on mutation location: RHD domain, TAD domain, ID domain, outside domain, and biallelic mutations. Baseline demographics, complete-remission (CR) rate and minimal residual disease (MRD) negativity rates after chemotherapy, as well as 2-year overall survival (OS) and event-free survival (EFS) were systematically compared.
resultsBiallelic-mutant patients exhibited the lowest CR rate, the highest 2-year relapse rate, and the poorest 2-year OS and EFS. Cox regression analysis identified single-site mutation as an independent favorable prognostic factor. Among patients harboring single-site RUNX1 mutation, ID-domain mutations group achieved the highest two-cycle CR and MRD negativity rates, whereas TAD-domain mutants displayed the lowest MRD-negativity rate.
conclusionsCollectively, these findings indicate that the specific locus of RUNX1 mutation modulates chemotherapy efficacy and outcome, providing critical insights for precision therapy in RUNX1mutant AML.
trial registrationThis study has been approved by the Ethics Committee of Nanfang Hospital, Southern Medical University (Approval Number: NFEC-2025-505), and it has been reviewed and approved by the Chinese Clinical Trial Registry (Registration number: ChiCTR2500111148) and registered in the National Medical Research Information Filing Information System of China.
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