Open access
DDX41 mutations establish a separate entity in acute myeloid leukemia with distinct survival outcomes
Carolin Seeling
Maral Saadati
D. Späth
M. Heuser
F. Thol
A. Ganser
E. Papaemmanuil
Lars Bullinger
A. Benner
H. Döhner
K. Döhner
Medicine
Abstract
Recurrent germline variants in DDX41 represent the most common inherited predisposition to adult myeloid neoplasms, occurring in approximately 3% – 5% of patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). 1,2 Clinically, patients with DDX41 ‐ mutated AML are typically older at diagnosis, predominantly male