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Updated: Jun 20, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic
Yang Zhang1, Fang Wang1, Xue Chen1
1Divison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China.
Insights
DEAD-box helicase 41 (DDX41) mutations are now identified in acute lymphoblastic leukemia (ALL) and aplastic anemia (AA), expanding the known spectrum of this gene in hematological diseases beyond myeloid neoplasms.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Limited research has explored DEAD-box helicase 41 (DDX41) mutations in hematological disorders outside of myeloid neoplasms.
- DDX41 plays a crucial role in various cellular processes, and its dysregulation is implicated in certain cancers.
Purpose of the Study:
- To investigate the prevalence and characteristics of DDX41 mutations in myeloid neoplasms, acute lymphoblastic leukemia (ALL), and aplastic anemia (AA).
- To identify novel DDX41 variants and expand the understanding of its mutation and phenotypic spectrum in hematological diseases.
Main Methods:
- Genetic analysis of patient cohorts with myeloid neoplasms, ALL, and AA.
- Identification and characterization of DDX41 variants, including novel mutations.
Main Results:
- DDX41 mutations were found in 0.8% of myeloid neoplasms, 0.9% of ALL, and 1.0% of AA.
- Fifteen causal DDX41 variants were detected in 14 patients, with seven being previously unreported.
- Distinct characteristics of DDX41 mutations were observed in ALL patients.
- Patients with germline missense DDX41 mutations in myeloid neoplasms were younger than those with germline nonsense mutations.
Conclusions:
- This study reports for the first time DDX41 mutations in ALL and AA.
- The findings expand the known mutation and phenotypic spectrum of DDX41 in hematological malignancies and related disorders.
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.
