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

doi:10.1111/bjh.16668

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

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34 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 language	English (US)
Pages (from-to)	1006-1010
Number of pages	5
Journal	British Journal of Haematology
Volume	192
Issue number	6
DOIs	https://doi.org/10.1111/bjh.16668
State	Published - Mar 2021
Externally published	Yes

Keywords

DDX41 variants
demethylation therapy
genetic predisposition
myelodysplastic syndromes

ASJC Scopus subject areas

Hematology

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10.1111/bjh.16668

Cite this

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title = "Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations",

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",

author = "Shiqiang Qu and Bing Li and Tiejun Qin and Zefeng Xu and Lijuan Pan and Naibo Hu and Gang Huang and {Peter Gale}, Robert and Zhijian Xiao",

note = "Publisher Copyright: {\textcopyright} 2020 British Society for Haematology and John Wiley & Sons Ltd",

year = "2021",

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doi = "10.1111/bjh.16668",

language = "English (US)",

volume = "192",

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T1 - Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations

AU - Qu, Shiqiang

AU - Li, Bing

AU - Qin, Tiejun

AU - Xu, Zefeng

AU - Pan, Lijuan

AU - Hu, Naibo

AU - Huang, Gang

AU - Peter Gale, Robert

AU - Xiao, Zhijian

PY - 2021/3

Y1 - 2021/3

N2 - 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.

AB - 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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KW - demethylation therapy

KW - genetic predisposition

KW - myelodysplastic syndromes

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Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations

Abstract

Keywords

ASJC Scopus subject areas

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