Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations

Br J Haematol. 2021 Mar;192(6):1006-1010. doi: 10.1111/bjh.16668. Epub 2020 Apr 19.

Abstract

We screened 47 subjects with DDX41 variants among 1529 subjects with myeloid neoplasms. The most common germline variants included Splice c.935 + 4A>T, p.T360Ifs*33, p.V152G, p.S217Ifs*4, p.R311* and p.R369*. Except for the p.R369*, no other variants have been previously reported. Clinical covariates of subjects with simple DDX41 somatic variants and germline/somatic biallelic variants are similar. The two-year overall survival (OS) of subjects with DDX41 variants was 85%. Overall response rate to demethylation therapy in subjects with DDX41 variants was 69%. The response did not correlate with the presence of a germline variant.

Keywords: DDX41 variants; demethylation therapy; genetic predisposition; myelodysplastic syndromes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • DEAD-box RNA Helicases / genetics*
  • DEAD-box RNA Helicases / metabolism
  • Disease-Free Survival
  • Female
  • Hematologic Neoplasms* / enzymology
  • Hematologic Neoplasms* / genetics
  • Hematologic Neoplasms* / mortality
  • Hematologic Neoplasms* / therapy
  • Humans
  • Leukemia, Myeloid, Acute* / enzymology
  • Leukemia, Myeloid, Acute* / genetics
  • Leukemia, Myeloid, Acute* / mortality
  • Leukemia, Myeloid, Acute* / therapy
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes* / enzymology
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / mortality
  • Myelodysplastic Syndromes* / therapy
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Survival Rate

Substances

  • Neoplasm Proteins
  • DDX41 protein, human
  • DEAD-box RNA Helicases