DDX41 is a DEAD-box helicase and is conserved across species. Mutations in DDX41 have
been associated with myeloid neoplasms, including myelodysplastic syndrome and acute …

DDX41 is the most frequently mutated gene in myeloid neoplasms associated with germline
predisposition including myelodysplastic syndromes (MDS) and acute myeloid leukemia …

Deleterious germline variants are now recognized as common drivers of hematopoietic
malignancies (HMs) and bone marrow failure syndromes. With the increasing use of …

Abstract The cytogenetic abnormality inv (2)(p23q13) in acute myeloid leukemia (AML)
results in a fusion of RANBP2 with ALK. This fusion makes ALK constitutively active and acts …

Cells possess an inherent and evolutionarily conserved ability to detect and respond to the
presence of foreign and pathological 'self'nucleic acids. The result is the stimulation of innate …

Although numerous barriers for clinical germline cancer predisposition testing exist, the
increasing recognition of deleterious germline DNA variants contributing to myeloid …

Epidemiological evidence of familial predispositions to myeloid malignancies and
myeloproliferative neoplasms (MPN) has long been recognised, but recent studies have …

Abstract DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases.
The DEAD-box RNA helicases share a highly conserved core structure and regulate all …

Background Predisposition to myeloid malignancies is a field at the border of hematology
and genetics. Knowledge in this domain has so rapidly increased that WHO defined in 2016 …

Discussion Here, for the first time, we report a case of VEXAS Syndrome in a patient with
underlying DDX41-GPS who had marginal zone lymphoma and later diagnosis of MDS …