For six of the patients who developed AML in pedigree B: B/III.4; B/III:6, pedigree D: D/II:6, pedigree F: F/III:2 and III:6, pedigree H: H/III.1, pedigree I: I/II:2 a second alteration of RUNX1 has been evidenced as previously reported (Table 2) [11, 33]. The gene discussed is RUNX1; the disease is acute myeloid leukemia.