Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

Next-generating sequencing (NGS) has helped to reveal the genomic landscape of inherited hematological malignancies. Various genes have recently been identified in families that predispose to increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The presentation of the disease varies between the predisposition genes.