[Germline DDX41 mutations and myelodysplastic neoplasms].

Abstract

DDX41 mutations represent one of the most frequent germline mutations in patients with myelodysplastic neoplasms, conferring unique clinical features of age of onset, prognosis, pathogenic mechanisms, and treatment response. This review summarizes the molecular epidemiology and clinical features of germline DDX41-mutated MDS, with a particular focus on recent advances in the "second-hit" model underlying disease pathogenesis. We further review the efficacy of current therapeutic strategies and discuss the applicability and limitations of existing prognostic scoring systems for this unique patient population. This review aims to provide an updated overview of current evidence and to inform risk stratification, clinical management, and long-term care of patients with germline DDX41-mutated MDS.