label: Hematologic Neoplasm with Germline DDX41 Mutation
label_lc: hematologic neoplasm with germline ddx41 mutation
description: An autosomal dominant familial myelodysplastic syndrome/acute myeloid leukemia syndrome characterized by inherited mutations in the gene on chromosome 5 encoding the DEAD box RNA helicase DDX41. Patients usually present with leukopenia, hypocellular bone marrow with prominent erythroid dysplasia and a normal karyotype, often leading to erythroleukemia. The prognosis is generally poor. (WHO 2017)