Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia

Yang Zhang; Fang Wang; Xue Chen; Hong Liu; Xiaoliang Wang; Jiaqi Chen; Panxiang Cao; Xiaoli Ma; Hongxing Liu

doi:10.1002/jha2.256

Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia

EJHaem. 2021 Jun 27;2(3):508-513. doi: 10.1002/jha2.256. eCollection 2021 Aug.

Authors

Yang Zhang¹, Fang Wang¹, Xue Chen¹, Hong Liu¹, Xiaoliang Wang¹, Jiaqi Chen¹, Panxiang Cao¹, Xiaoli Ma¹, Hongxing Liu^{1

2

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Affiliations

¹ Divison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China.
² Divison of Laboratory Medicine Beijing Lu Daopei Hospital Beijing China.
³ Beijing Lu Daopei Institute of Hematology Beijing China.

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.

Keywords: DDX41 mutations; acute lymphoblastic leukemia; aplastic anemia; genetic predisposition.