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An inherited fault in the DDX41 gene is the commonest known inherited cause of myelodysplastic syndrome and acute myeloid leukaemia, and it usually shows itself in older adults rather than children. Finding it matters for treatment and for choosing a family stem cell donor.
Heterozygous, often truncating, germline DDX41 variants. Risk of a haematological malignancy is very low before 40 and rises to 49% by 90, with a strong male predominance (about 75%). AML arising in carriers responds well to chemotherapy and has better overall survival than AML without a germline DDX41 variant; after stem cell transplantation carriers have high rates of graft-versus-host disease, which post-transplant cyclophosphamide can abrogate (AACR 2024, citing the original series).
Surveillance (AACR 2024, table 2): blood count with differential every 6 to 12 months, and bone marrow with a somatic gene panel every one to three years, once in the age range where malignancy occurs. NCCN recommends testing for haematopoietic malignancy predisposition in all patients with MDS and adults under 50 with AML, and relatives offered as donors are tested.
In plain words · DDX41 (Probable ATP-dependent RNA helicase DDX41) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Myelodysplastic syndromes / neoplasms and 1 more.
Showing the target this term concerns: DDX41.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Hereditary cancer syndromes, Allogeneic stem cell transplantation, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing, Acute myeloid leukaemia and the tag hereditary.
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