In addition to its involvement in the translocation t(8;21), RUNX1 is also dysregulated by mutations found in patients with AML and MDS, as well as by amplification in patients with ALL. Germline mutations resulting in RUNX1 haploinsufficiency have been reported in cases of familial platelet disorder, an autosomal-dominant disease with quantitative and qualitative platelet defects and progressive pancytopenia, with a predisposition to development of AML.50 In de novo AML, somatic point mutations occur in up to 10% of cases. Interestingly, RUNX1 mutations are mainly found in minimally differentiated AML (FAB M0), with a frequency of up to 22%, reflecting the importance of RUNX1 in the earliest stages of hematopoiesis.

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