How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms
Year: 2024
Type: article
Abstract: Increasing recognition of germline DDX41 variants in patients with hematological malignancies prompted us to provide DDX41‐specific recommendations for diagnosis, surveillance, and treatment. Causative germline variants in the DDX41 predispose to the development of myeloid neoplasms (MNs), especially myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Almost 3%–5% of all patients with MDS or AML carry a pathogenic or likely pathogenic germline DDX41 variant, while half of them acquire a somatic second hit in the other allele. DDX41‐associated MNs exhibit unique clinical characteristics compared to other hematological malignancies with germline predisposition: MNs occur mostly at advanced age and follow an indolent clinical course. Male carriers are more prone to develop MDS or AML than females. DDX41‐associated MN is often hypoplastic, and the malignancy may be preceded by cytopenias.
Source: HemaSphere
DOI: 10.1002/hem3.145
Institutions: Uppsala University, Karolinska University Hospital, Karolinska Institutet, Lund University, Skåne University Hospital, Oslo University Hospital, Innlandet Hospital Trust, University of Helsinki, Helsinki University Hospital, Helsinki Children's Hospital, Copenhagen University Hospital, Rigshospitalet, Region Skåne, Odense University Hospital, University of Copenhagen, Finnish Cancer Institute
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,250
Awards: G5729779038, G7680588271
OpenAlex ID: W4401547577