Lesesve J F, Troussard X, Bastard C, Hurst J P, Nouet D, Callat M P, Lenormand B, Piguet H, Flandrin G, Macintyre E
Laboratoire d'Hématologie, CHU Charles Nicolle, Rouen, France.
Br J Haematol. 1996 Nov;95(2):372-5. doi: 10.1046/j.1365-2141.1996.d01-1898.x.
We describe two patients with myelodysplastic syndrome (MDS) and the Philadelphia chromosome (Ph). The patients were 64- and 69-year-old men who were diagnosed as having refractory anaemia with excess of blasts. During the terminal phase, the MDS evolved to myeloblastic leukaemia. Chromosome analysis showed normal karyotypes mixed with metaphases containing a classic Ph chromosome t(9;22)(q34;q11). Surprisingly, molecular studies showed breakpoint cluster region rearrangement between exons e1 and a2, compatible with a p190bcr/abl breakpoint, as observed in acute lymphoblastic leukaemia. We discuss the correlation between MDS and acquisition of the Ph chromosome, and the occurrence of p190bcr/abl in MDS.
我们描述了两名患有骨髓增生异常综合征（MDS）和费城染色体（Ph）的患者。这两名患者分别为64岁和69岁男性，均被诊断为伴有过多原始细胞的难治性贫血。在终末期，MDS演变为急性髓细胞白血病。染色体分析显示正常核型与含有经典Ph染色体t(9;22)(q34;q11)的中期相混合。令人惊讶的是，分子研究显示外显子e1和a2之间存在断点簇区域重排，这与急性淋巴细胞白血病中观察到的p190bcr/abl断点相符。我们讨论了MDS与获得Ph染色体之间的相关性，以及MDS中p190bcr/abl的发生情况。
