Synchronous myelodysplastic syndrome and multiple myeloma: a DDX41-associated double-hit across two lineages

Washington NR, Shippey EA, Osswald M. Successful treatment of concurrently diagnosed multiple myeloma and myelodysplastic syndrome with isolated Del(5q) with lenalidomide, bortezomib, and dexamethasone. Cureus 2021; 13: e19742.

Google Scholar

Jonsdottir G, Björkholm M, Turesson I, et al. Cumulative exposure to melphalan chemotherapy and subsequent risk of developing acute myeloid leukemia and myelodysplastic syndromes in patients with multiple myeloma. Eur J Haematol 2021; 107: 275-82.

Google Scholar

Yalniz FF, Greenbaum U, Pasvolsky O, et al. Characteristics and outcomes of patients with multiple myeloma who developed therapy-related acute myeloid leukemia and myelodysplastic syndrome after autologous cell transplantation. Transplant Cell Ther 2024; 30: 205.e201-12.

Google Scholar

Chlon TM, Stepanchick E, Hershberger CE, et al. Germline DDX41 mutations cause ineffective hematopoiesis and myelodysplasia. Cell Stem Cell 2021; 28: 1966-81.

Google Scholar

Winstone L, Jung Y, Wu Y. DDX41: exploring the roles of a versatile helicase. Biochem Soc Trans 2024; 52: 395-405.

Google Scholar

Weinreb JT, Bowman TV. Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies. FEBS Lett 2022; 596: 2736-45.

Google Scholar

Stepanchick E, Wilson A, Sulentic AM, et al. DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy. Leukemia 2024; 38: 1787-98.

Google Scholar

Miao L, Wang X, Yao M, Tao Y, Han Y. Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis. Ann Hematol 2025; 104: 2581-91.

Google Scholar

Tiong IS, Stevenson WS, Wall M, et al. Favorable outcomes of DDX41-mutated myelodysplastic syndrome and low blast count acute myeloid leukemia treated with azacitidine ± lenalidomide. EJHaem 2023; 4: 1212-5.

Google Scholar

10.

Goyal T, Tu ZJ, Wang Z, Cook JR. Clinical and pathologic spectrum of DDX41-mutated hematolymphoid neoplasms. Am J Clin Pathol 2021; 156: 829-38.

Google Scholar

11.

Makishima H, Saiki R, Nannya Y, et al. Germ line DDX41 mutations define a unique subtype of myeloid neoplasms. Blood 2023; 141: 534-49.

Google Scholar

12.

Bataller A, Loghavi S, Gerstein Y, et al. Characteristics and clinical outcomes of patients with myeloid malignancies and DDX41 variants. Am J Hematol 2023; 98: 1780-90.

Google Scholar

13.

Alkhateeb HB, Nanaa A, Viswanatha D, et al. Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms. Blood Adv 2022; 6: 528-32.

Google Scholar

14.

Bruehl FK, Elbaz Younes I, Bosler DS, Kelemen K, Jiang L, Reichard KK. Peripheral blood and bone marrow findings in treatment-naive patients with cytopenia(s)/myeloid neoplasms harboring both a germline and a somatic DDX41 mutation. Appl Immunohistochem Mol Morphol 2024; 32: 371-81.

Google Scholar

15.

Yan W, Qu XY, Li H, et al. Coexistence of plasma cell neoplasia and myelodysplastic syndrome with excess blasts: case reports and literature review. Ann Palliat Med 2021; 10: 12431-40.

Google Scholar

16.

Li P, Brown S, Williams M, et al. The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms. Blood 2022; 140: 716-55.

Google Scholar

17.

Yasuda T, Sanada M, Nishijima D, et al. Clinical utility of target capture-based panel sequencing in hematological malignancies: a multicenter feasibility study. Cancer Sci 2020; 111: 3367-78.

Google Scholar

18.

Liu J, Tang Y, Qin T, et al. The dynamic alterations of DDX41 mutations in patients with myelodysplastic neoplasms treated with lenalidomide. Leuk Lymphoma 2026; 67: 699-703.

Google Scholar

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