ArticleInternational journal of hematology2020
Novel DDX41 variants in Thai patients with myeloid neoplasms.
Article in International journal of hematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis.Annals of hematology · 2025Pooled it
- Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.British journal of haematology · 2025Article
- DDX41: exploring the roles of a versatile helicase.Biochemical Society transactions · 2024Review
- Article
- Germline and somatic drivers in inherited hematologic malignancies.Frontiers in oncology · 2023Review
- Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.FEBS letters · 2022Review
- Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.Current hematologic malignancy reports · 2022Review
- Article
- Article
- DDX41 is required for cGAS-STING activation against DNA virus infection.Cell reports · 2022Article
- AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome.Leukemia · 2022Article
- Unique ethnic features ofHaematologica · 2022Article
- Unique role of DDX41, a DEAD-box type RNA helicase, in hematopoiesis and leukemogenesis.Frontiers in oncology · 2022Review
- TP53 mutation in newly diagnosed acute myeloid leukemia and myelodysplastic syndrome.Diagnostic pathology · 2021Article
- Next-generation sequencing reveals the presence ofEJHaem · 2021Article
- Advances in germline predisposition to acute leukaemias and myeloid neoplasms.Nature reviews. Cancer · 2021Review
- Clinical features ofTherapeutic advances in hematology · 2021Review
- Spliceosomal factor mutations and mis-splicing in MDS.Best practice & research. Clinical haematology · 2020Review
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 2 countries.
Funding
Abstract
Germline DDX41 mutations were recently reported to cause MDS/AML and donor-derived leukemia after transplantation. While previously described in Western countries, DDX41 variants have not been reported in a Southeast Asian population. We performed targeted sequencing of blood or bone marrow samples from 109 Thai patients with myeloid malignancies. Among the 109 patients (75 MDS, 8 MPN, 11 MDS/MPN and 15 AML), the most frequent mutations were in ASXL1 (17.4%), TET2 (16.5%) and SRSF2 (12.8%), respectively. DDX41 variants were detectable in six (5.5%) cases. Four patients exhibited three presumable germline DDX41 mutations: p.S21fs (n = 2), p.F235fs (n = 1), and p.R339H (n = 1). While p.S21fs was previously reported in myeloid neoplasm, the latter two variants have not been described. Two of these cases harbored concomitant probable germline/somatic DDX41 mutations (p.S21fs/p.R525H and p.R339H/p.K494T), while the other two patients carried only somatic mutations (p.R525H and p.F438L). The p.K494T and p.F438L variants have not been previously reported. In patients with DDX41 alterations, the diagnoses were MDS with excess blasts (4), secondary AML (1) and low-risk MDS (1). In conclusion, we identified DDX41 variants in Thai patients with myeloid malignancies in which these variants could be used to assess predisposition to MDS in Southeast Asia.
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