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I DDX41 i mutations were detected in 0.6% (2/329) adult ALL patients of our cohorts comparable with a recent report.[10] Previous studies showed that I DDX41 i -mutated patients of MNs presented as male predominance and old age. Germline DDX41 mutations define a significant entity within adult MDS/AML patients. We found three variants in I DDX41 i (p.R525H, p.G530D and p.Y259C) and confirmed the germline origin of p.Y259C of I DDX41 i by Sanger sequencing. [Extracted from the article]

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]