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) |
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Pages (from-to) | 1006-1010 |
Number of pages | 5 |
Journal | British Journal of Haematology |
Volume | 192 |
Issue number | 6 |
DOIs | |
State | Published - Mar 2021 |
Externally published | Yes |
Keywords
- DDX41 variants
- demethylation therapy
- genetic predisposition
- myelodysplastic syndromes
ASJC Scopus subject areas
- Hematology