Molecular and clinical features of myeloid neoplasms with somatic <i>DDX41</i> mutations
Shiqiang Qu, Bing Li, Tiejun Qin, Zefeng Xu, Lijuan Pan, Naibo Hu, Gang Huang, Robert Peter Gale, Zhijian Xiao
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.
Topics & Concepts
GermlineSomatic cellMyeloidGermline mutationBiologyGeneticsMutationInternal medicineMedicineOncologyCancer researchGeneAcute Myeloid Leukemia ResearchMyeloproliferative Neoplasms: Diagnosis and TreatmentEpigenetics and DNA Methylation