MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Br J Haematol. 2021 Mar;192(6):1006-1010. doi: 10.1111/bjh.16668. Epub 2020 Apr 19.
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.T360Ifs33, p.V152G, p.S217Ifs4, 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.
我们在 1529 例髓系肿瘤患者中筛查出 47 例 DDX41 变异患者。最常见的种系变异包括剪接 c.935+4A>T、p.T360Ifs33、p.V152G、p.S217Ifs4、p.R311和 p.R369。除 p.R369*外，其他变异尚未有报道。单纯 DDX41 体细胞变异和种系/体细胞双等位变异患者的临床伴随特征相似。DDX41 变异患者的两年总生存率（OS）为 85%。DDX41 变异患者接受去甲基化治疗的总体缓解率为 69%。反应与种系变异的存在无关。
