International Journal of Hematology

DOI: 10.1007/s12185-019-02770-3 Pages: 241-246

Novel DDX41 variants in Thai patients with myeloid neoplasms

1. Chulalongkorn University, King Chulalongkorn Memorial Hospital, Department of Medicine, Faculty of Medicine

2. Chulalongkorn University, Research Collaborations in Hematologic Malignancies and Hematopoietic Stem Cell Transplantation

3. Kyoto University, Department of Pathology and Tumor Biology

4. Mahidol University Ramathibodi Hospital, Department of Medicine, Faculty of Medicine

5. Chiang Mai University, Department of Medicine, Faculty of Medicine

6. Buddhasothorn Hospital, Department of Medicine

7. Kyoto University, Institute for the Advanced Study of Human Biology (WPI-ASHBi)

8. Karolinska Institute, Department of Medicine, Centre for Haematology and Regenerative Medicine

Correspondence to:
Ponlapat Rojnuckarin



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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