Dokal I, Rule S, Chen F, Potter M, Goldman J
Department of Haematology, Royal Postgraduate Medical School and Hammersmith Hospital, London.
Br J Haematol. 1997 Oct;99(1):171-3. doi: 10.1046/j.1365-2141.1997.3673181.x.
Three male patients (two of whom were brothers) with Shwachman-Diamond (SDS) syndrome presented with acute myeloid leukaemia in adulthood. In all three cases there was trilineage myelodysplasia and the morphology 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 leukaemia, particularly where features of myelodysplasia are prominent.
三名患有施瓦赫曼-戴蒙德（SDS）综合征的男性患者（其中两名是兄弟）在成年期出现急性髓系白血病。在所有三例中均存在三系骨髓发育异常，形态学与FAB亚型M6一致。SDS是一种遗传性骨髓衰竭综合征，具有很高的白血病转化倾向。由于这种情况可能直到成年期才会发生，因此在成年急性髓系白血病患者的鉴别诊断中应考虑SDS，尤其是骨髓发育异常特征突出的患者。
