DDX41-related myeloid neoplasia

While early presentation of familial leukemia syndromes is typical, long disease anticipation may mask cases of familial traits in seemingly spontaneous disease. Germline mutations in DDX41 gene have been discovered in several leukemia families, as well as in mostly adult patients with seemingly spontaneous disease but having strong family histories of myeloid neoplasia. As with other familial genes, DDX41 mutation carriers can develop neoplasia through acquisition of another somatic mutation, thereby affecting both DDX41 alleles.

Source: Seminars in Hematology - April 21, 2017 Category: Hematology Authors: Jaroslaw P. Maciejewski, Richard A. Padgett, Anna L. Brown, Carsten M üller-Tidow Source Type: research