Next‐generation sequencing reveals the presence of <i>DDX41</i> mutations in acute lymphoblastic leukemia and aplastic anemia
Yang Zhang, Fang Wang, Xue Chen, Hong Liu, Hong Liu, Xiaoliang Wang, Jiaqi Chen, Panxiang Cao, Xiaoli Ma, Hongxing Liu, Hongxing Liu
Abstract
Abstract Limited studies have been described DEAD‐box helicase 41 ( DDX41) mutations in hematological diseases other than myeloid neoplasms. In this study, DDX41 mutations were identified in 0.8% of myeloid neoplasms, 0.9% of acute lymphoblastic leukemia (ALL), and 1.0% of aplastic anemia (AA). A total of 15 causal DDX41 variants in 14 patients were detected; seven of which have not been reported previously. In myeloid neoplasms, the median age of patients with germline missense was lower than that of germline nonsense mutations. In ALL, the characteristics of DDX41 mutation were distinct. This study first reported DDX41 mutations in ALL and AA, expanding its mutation and phenotypic spectrum.