Molecular and clinical features of myeloid neoplasms with somatic  DDX41  mutations | Zendy

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

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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.

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