Allogeneic hematopoietic stem cell transplantation in patients with germ line DDX41 mutated myeloid malignancies.

ABSTRACT:

Abstract

Germ line DDX41 mutations (DDX41mut) are identified in ∼5% of myeloid malignancies with an excess of blasts, representing a distinct myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) entity. The disease is associated with better outcomes than DDX41 wild-type (DDX41WT) cases, but patients who do not undergo allogeneic hematopoietic stem cell transplantation (HSCT) may experience late relapse. Because of the recent identification of DDX41mut, data on the post-HSCT outcomes remain limited. In this study, we report the HSCT outcomes of 83 patients with DDX41mut MDS/AML. With a median follow-up of 4.4 years, the 2-year leukemia-free survival (LFS) was 68.6% (95% confidence interval [CI], 57.1-77.6) and the 2-year nonrelapse mortality (NRM) was 21.1% (95% CI, 12.9-30.6

SUBMITTER: Loschi M 

PROVIDER: S-EPMC12744251 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature