Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations

被引：33
作者：
Qu, Shiqiang [1 ,2 ,3 ,4 ]
Li, Bing [1 ,2 ,3 ,4 ]
Qin, Tiejun [1 ,2 ,3 ]
Xu, Zefeng [1 ,2 ,3 ,4 ]
Pan, Lijuan [1 ,2 ,3 ]
Hu, Naibo [1 ,2 ,3 ]
Huang, Gang [5 ,6 ,7 ]
Gale, Robert Peter [8 ]
Xiao, Zhijian [1 ,2 ,3 ,4 ]
机构：
[1] Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol, MDS & MPN Ctr, Tianjin 300020, Peoples R China
[2] Chinese Acad Med Sci & Peking Union Med Coll, Blood Dis Hosp, Tianjin 300020, Peoples R China
[3] Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
[4] Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol, Natl Clin Res Ctr Blood Dis, Tianjin, Peoples R China
[5] Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA
[6] Cincinnati Childrens Hosp Med Ctr, Div Expt Hematol, Cincinnati, OH 45229 USA
[7] Cincinnati Childrens Hosp Med Ctr, Div Canc Biol, Cincinnati, OH 45229 USA
[8] Imperial Coll London, Dept Immunol & Inflammat, Haematol Sect, London, England
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 2021年 / 192卷 / 06期
关键词：
DDX41; variants; genetic predisposition; myelodysplastic syndromes; demethylation therapy; BIOLOGICAL IMPLICATIONS; FAMILY;
D O I：
10.1111/bjh.16668
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：1006 / 1010
页数：5
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