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We retrospectively explored the prognostic impact of DAT mutations at diagnosis in 122 RUNX1 mut AML patients. RUNX1 missense mutation was dominant in the RUNT domain, and frameshift mutation was dominant in the TAD domain. DAT mutations occurred in 38.5% of RUNX1 mut AML. After propensity score matching, DAT pos patients had worse two-year relapse-free survival (RFS) than DAT neg patients ( p  = .041). Moreover, RUNX1 high (VAF ≥ 37.6%) patients showed poorer two-year overall survival (OS) and RFS than RUNX1 low (VAF < 37.6%) patients (OS, p  = .033; RFS, p  = .027), especially in the RUNX1 high DAT pos group. Additionally, multivariate analysis confirmed that DAT mutations at diagnosis were an independent adverse factor for RFS. There were no significant differences in two-year OS and RFS between DAT pos and DAT neg patients or between RUNX1 high and RUNX1 low patients who undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). Collectively, DAT mutations at diagnosis were adverse factors for RFS, and allo-HSCT could likely improve the poor outcomes of these patients.

Most clinical characteristics of MDS/AML patients with variants in the SWI/SNF complex were similarly distributed as those in patients with wild-type genes (Table I). Keywords: SWI/SNF; mutation; acute myeloid leukaemia; myelodysplastic syndrome; prognosis EN SWI/SNF mutation acute myeloid leukaemia myelodysplastic syndrome prognosis 441 444 4 01/17/22 20220115 NES 220115 Myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) are heterogeneous groups of myeloid neoplasms. In the present study, we analyzed the frequency, clinical and prognostic significance of mutations in 29 genes encoding SWI/SNF complex in MDS/AML patients. Considering all variants in the SWI/SNF complex as one group, overall survival (OS) was significantly longer in the presence of SWI/SNF variants [Hazard ratio (HR) 0-38, 95% CI 0-202-0-704; I P i = 0-027; Fig 1C]. [Extracted from the article]