MDS and AML are reported in about 40% of patients with RUNX1 germline mutations and in 8% of patients with ANKRD26 related thrombocytopenia, whereas 23% of the 73 patients with ETV6 familial thrombocytopenia described so far had hematological malignancies [47,48]. Here, ETV6 is linked to Thrombocytopenia.