The clinical “take-home message” of our report is that comprehensive cytogenetic investigations, if possible including a-CGH, should always be performed for the diagnostic evaluation of patients with BM aplasia/hypoplasia and peripheral cytopenias: in this regard, it is worth noting that the reduced RUNX1 expression in the abnormal BM cells of patients 1 and 2 is strictly comparable to that of patients with FPD/AML, in whom a 20-50% risk of MDS/AML is expected [23]. This evidence concerns the gene RUNX1 and myelodysplastic syndrome.