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This is an inherited fault in the RUNX1 gene that causes a low or poorly working platelet count and a lifetime risk of leukaemia estimated at 30 to 40 percent. Regular blood and marrow checks watch for change, and relatives are tested before anyone in the family donates stem cells.
Autosomal dominant, germline RUNX1 variants. Thrombocytopenia and platelet dysfunction with a propensity to myeloid neoplasms; lifetime risk of leukaemic transformation is estimated at 30 to 40%, with age at leukaemia diagnosis ranging from 6 to 77 years (Research and Practice in Thrombosis and Haemostasis 2020 case series and review). Leukaemic transformation often involves somatic mutation of the other RUNX1 allele.
Surveillance (AACR 2024, table 2): blood count with differential every 6 to 12 months, bone marrow every one to three years, and a somatic gene panel every one to three years. Genetic counselling should be offered and relatives tested, because of what it would mean if an affected relative were chosen as an allogeneic stem cell donor.
In plain words · RUNX1 (Runt-related transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.
Showing the target this term concerns: RUNX1.
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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