ArticleBlood advances2025
Allogeneic hematopoietic stem cell transplantation in patients with germ line DDX41 mutated myeloid malignancies.
Article in Blood advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.The Korean journal of internal medicine · 2026Review
- Germline DDX41 Variants: Current Understanding and Future Directions.Current hematologic malignancy reports · 2026Review
- The germline challenge in allogeneic transplantation: from donor selection to outcomes.Bone marrow transplantation · 2026Article
- MDS/AML-associated DDX41 helicase facilitates homologous recombination repair by potentially resolving R-loops.Nucleic acids research · 2026Article
- Impact of germline predisposition genes to hematologic malignancies on transplant outcomes and donor selection.Frontiers in immunology · 2026Article
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Authors and funding
36 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
abstractGerm 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). We then assessed the impact of DDX41mut using a pair match analysis performed on patients who underwent a transplantation in AML clinical trials. No significant differences were observed between patients with DDX41mut and those with DDX41WT in terms of LFS at 2 years (hazard ratio, 1.06; 95% CI, 0.59-1.90; P = .84), overall survival, NRM, relapse, or graft-versus-host disease incidence. The cumulative incidence of relapse for DDX41mut showed a trend toward a lower relapse rate during the first year then higher after 1 year. Given the familial nature of the disease, we specifically examined patients who relapsed after HSCT with a related donor and identified 7 cases of DDX41mut donor cell leukemia. In this study, HSCT in patients with DDX41mut AML was not associated with an increased risk for toxicity. However, we observed a potential for later relapse, which could potentially be mitigated by selecting related donors based on DDX41 status.
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