{"entity":{"id":"familial-platelet-disorder-runx1","kind":"term","name":"RUNX1 familial platelet disorder with associated myeloid malignancy","aka":["FPD/AML","FPDMM","RUNX1-FPD","familial platelet disorder with predisposition to myeloid malignancy","germline RUNX1"],"tldr":"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.","summary":"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.\n\nSurveillance (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.","asOf":"2026-11-04","links":[{"label":"Res Pract Thromb Haemost 2020: clinical heterogeneity of RUNX1 familial platelet disorder, case series and review","url":"https://doi.org/10.1002/rth2.12282"},{"label":"Maese, Clin Cancer Res 2024: surveillance for children with predisposition to haematopoietic malignancy (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-0685"},{"label":"Orphanet ORPHA:71290","url":"https://www.orpha.net/en/disease/detail/71290"}],"tags":["gap-fill","hereditary"],"related":["germline-myeloid-predisposition"],"cancers":["aml","mds"],"sections":[],"technologies":["allogeneic-hsct","germline-testing"],"targets":["runx1"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Orphanet ORPHA:71290. In the NHS directory it falls under R347, inherited predisposition to AML."],"category":"Genomics & genetics"},"route":"/terms/familial-platelet-disorder-runx1/","neighbours":{"term":[{"id":"germline-myeloid-predisposition","kind":"term","name":"Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS)","route":"/terms/germline-myeloid-predisposition/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"}],"technology":[{"id":"allogeneic-hsct","kind":"technology","name":"Allogeneic stem cell transplantation","route":"/technologies/allogeneic-hsct/"},{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"runx1","kind":"target","name":"RUNX1","route":"/targets/runx1/"}]}}