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Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations
Author(s) -
Qu Shiqiang,
Li Bing,
Qin Tiejun,
Xu Zefeng,
Pan Lijuan,
Hu Naibo,
Huang Gang,
Peter Gale Robert,
Xiao Zhijian
Publication year - 2021
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.16668
Subject(s) - germline , somatic cell , myeloid , germline mutation , biology , genetics , mutation , medicine , oncology , cancer research , gene
Summary 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.