Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML)
Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML)
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From Wang et al. 2017RUNX1 mutations are present in 5% to 18% of AML [59–62]. They are associated with ASXL1 [59], MLLPTD [62], and IDH1/IDH2 mutations [62] and are essentially mutually exclusive of NPM1 mutations [59, 62]. RUNX1 mutations were found to be associated with resistance to chemotherapy, inferior DFS, EFS [59, 61, 62], and OS [59–62]. More importantly, RUNX1 mutations were deemed to be an independent prognostic marker for shorter EFS in multivariable analysis [62]. An explorative subgroup analysis demonstrated that RUNX1-mutated AML patients benefited from allo-HSC in terms of RFS [62].