Loading
Some people are born with a gene change that raises their risk of myelodysplastic syndrome or acute myeloid leukaemia, through genes such as DDX41, RUNX1, GATA2 and CEBPA or bone marrow failure conditions. Testing matters because it changes surveillance, treatment and which relative can safely donate stem cells.
The WHO (2022) and the International Consensus Classification recognise myeloid neoplasms with germline predisposition. The AACR 2024 update groups the predispositions by the risk of MDS: without other organ dysfunction (DDX41, RUNX1, ANKRD26, ETV6), with organ dysfunction (GATA2 deficiency with at least 80% lifetime MDS/AML penetrance, SAMD9/SAMD9L), and bone marrow failure syndromes (Fanconi anaemia, Shwachman-Diamond syndrome, telomere biology disorders, severe congenital neutropenia, Diamond-Blackfan anaemia). CEBPA and PAX5 predispose to acute leukaemia without a risk of MDS.
General advice for all: at least annual examination, education about symptoms, care at a centre with expertise, early consultation with a transplant specialist, a baseline blood count and, for those at risk of MDS in childhood, a baseline marrow. For syndromes with prognostic data, serial somatic gene panels on marrow detect clonal evolution (TP53 in Shwachman-Diamond syndrome, monosomy 7 with SETBP1, ASXL1 or RUNX1 in GATA2 deficiency). NCCN recommends predisposition testing in all patients with MDS and adults under 50 with AML; related 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 Hereditary cancer syndromes, Allogeneic stem cell transplantation, Germline (hereditary) testing and the tag hereditary.
Shares ETV6, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares CancerNext and CancerNext-Expanded (Ambry Genetics), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing, Acute myeloid leukaemia 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 and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Every source this page cites, grouped by who published it. Grouping is read from the web address, not assigned by hand.
A source that has moved or gone is reported by the weekly link check. /audit/