Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations

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. Clinica...

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Bibliographic Details
Published inBritish journal of haematology Vol. 192; no. 6; pp. 1006 - 1010
Main Authors Qu, Shiqiang, Li, Bing, Qin, Tiejun, Xu, Zefeng, Pan, Lijuan, Hu, Naibo, Huang, Gang, Peter Gale, Robert, Xiao, Zhijian
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.03.2021
Subjects
DDX41 variants
Demethylation
demethylation therapy
genetic predisposition
Hematology
myelodysplastic syndromes
Tumors
genetic predisposition
DDX41 variants
demethylation therapy
myelodysplastic syndromes
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Summary: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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Z.J.X. designed the research, was the principal investigator, and took primary responsibility for the paper; S.Q.Q., B.L. and Z.J.X. acquired the data, analysed and interpreted the data, performed statistical analysis and drafted the article; S.Q.Q., T.J.Q., Z.F.X, B.L., L.J.P., N.B.H., and Z.J.X. recruited the patients; Z.J.X., G.H. and R.P.G. prepared the manuscript.
Author contributions
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.16668