ArticleBlood advances2022
Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms.
Article in Blood advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis.Annals of hematology · 2025Pooled it
- Venetoclax combined chemotherapy versus chemotherapy alone for acute myeloid leukemia: a systematic review and meta-analysis.Frontiers in oncology · 2024Pooled it
- [Germline DDX41 mutations and myelodysplastic neoplasms].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Review
- Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.The Korean journal of internal medicine · 2026Review
- Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants.British journal of haematology · 2026Article
- Germline DDX41 Variants: Current Understanding and Future Directions.Current hematologic malignancy reports · 2026Review
- MDS/AML-associated DDX41 helicase facilitates homologous recombination repair by potentially resolving R-loops.Nucleic acids research · 2026Article
- Synchronous myelodysplastic syndrome and multiple myeloma: a DDX41-associated double-hit across two lineages.Archives of medical science : AMS · 2026Article
- Article
- How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know.Journal of clinical medicine · 2025Review
- Genomic variation in DDX41 identified through clinical sequencing.British journal of haematology · 2025Article
- Overall cancer risk in people with deleterious germlineHaematologica · 2025Article
- Broadening the differential diagnosis associated with germlineHaematologica · 2025Article
- Clinical Outcome and Molecular Profile in Patients withHematology reports · 2025Article
- How to manage patients with germlineHemaSphere · 2024Article
- DDX41: exploring the roles of a versatile helicase.Biochemical Society transactions · 2024Review
- Multifunctional role of DEAD-box helicase 41 in innate immunity, hematopoiesis and disease.Frontiers in immunology · 2024Review
- Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a GermlineCase reports in hematology · 2024Article
- Article
- AreHaematologica · 2023Article
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DDX41 mutations (germline and somatic) are associated with late onset myelodysplastic syndromes/acute myeloid leukemia (MDS/AML). Myeloid neoplasms (MN) with germline predisposition was identified as a distinct category in the 2016 WHO classification revision, including MN with germline DDX41 mutation. We retrospectively analyzed the molecular findings and clinical characteristics of thirty-three DDX41-mutated (mDDX41) patients at our institution. We identified 14 distinct pathogenic DDX41 variants in 32 patients and 8 DDX41 variants of unknown significance (VUS) in 9 patients. Five (16%) patients had a second DDX41 somatic mutation p.R525H and 13 (40%) had at least one additional oncogenic co-mutation in other genes. The median age at the time of diagnosis was 66 years, with male predominance (72%) and the majority of patients had normal cytogenetics (91%). Two-year overall survival (OS) was 86% and 6 (21%) MDS/AML patients with relatively preserved hematopoietic function were observed without further intervention. In comparison to AML patients with prognostically more favorable subtypes [t(8;21), n=27 and inv(16), n=40], mDDX41 patients in our cohort showed similarly favorable OS. Our study highlights that mDDX41-MN patients often have an indolent course and mDDX41-AML has comparable OS to favorable-risk AML.
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