ADULT-ONSET OF ACUTE MYELOID-LEUKEMIA (M6) IN PATIENTS WITH SHWACHMAN-DIAMOND-SYNDROME

Three male patients (two of whom were brothers) with Shwachman-Diamond (SDS) syndrome presented with acute myeloid leukaemia in adulthood. I n all three cases there was trilineage myelodysplasia and the morpholo gy was consistent with FAB subtype M6. SDS is an inherited bone marrow failure syndrome with a high propensity to leukaemic transformation. Since this may not occur until adulthood, SDS should be considered in the differential diagnosis of adults presenting with acute myeloid leu kaemia, particularly where features of myelodysplasia are prominent.