Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations

Shiqiang Qu, Bing Li, Tiejun Qin, Zefeng Xu, Lijuan Pan, Naibo Hu, Gang Huang, Robert Peter Gale, Zhijian Xiao

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1006-1010
Number of pages5
JournalBritish Journal of Haematology
Volume192
Issue number6
DOIs
StatePublished - Mar 2021
Externally publishedYes

Keywords

  • DDX41 variants
  • demethylation therapy
  • genetic predisposition
  • myelodysplastic syndromes

ASJC Scopus subject areas

  • Hematology

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