Recent studies have shown that RUNX1 germline mutations in patients with IBMFS are like ac­quired or somatic RUNX1 mutations that were found in myeloid malignancies, particularly in MDS and AML [3]. It has become clear that somatic RUNX1 mutations are more prevalent in MDS/AML that is secondary to IBMFS, such as FA and SCN. This evidence concerns the gene SRI and myelodysplastic syndrome.