Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms

Hassan B. Alkhateeb, Ahmad Nanaa, David Viswanatha, James M. Foran, Talha Badar, Lisa Sproat, Rong He, Phuong Nguyen, Dragan Jevremovic, Mohamad E. Salama, Patricia Greipp, Naseema Gangat, Ayalew Tefferi, Mark R. Litzow, Abhishek A. Mangaonkar, Mithun Vinod Shah, Mrinal Patnaik, Aref Al-Kali

Research output: Contribution to journalArticlepeer-review


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), n527 and inv(16), n540], 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.

Original languageEnglish (US)
Pages (from-to)528-532
Number of pages5
JournalBlood Advances
Issue number2
StatePublished - Jan 25 2022

ASJC Scopus subject areas

  • Hematology


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