Katsuno M, Yamashita S, Sadamura S, Umemura T, Hirata J, Nishimura J, Nawata H
Department of Haematology, Fukuoka Medical Association Hospital, Japan.
Br J Haematol. 1994 May;87(1):51-6. doi: 10.1111/j.1365-2141.1994.tb04869.x.
We describe a patient with acute nonlymphocytic leukaemia (ANLL) derived from myelodysplastic syndrome in whom the Philadelphia chromosome (Ph1) first emerged at the late stage of ANLL transformation. Cytogenetically, the Ph1 chromosome was not detected until the late stage of ANLL transformation, 14 months after the transformation following a 3-month history of refractory anaemia with excess of blasts. The cells with and without the Ph1 chromosome had a common abnormal chromosome, t(3;3) (q21;q26). The reverse transcription-polymerase chain reaction analysis showed no bcr/abl message at diagnosis. However, the mRNA encoding P210bcr/abl was detected in the early stage of ANLL transformation. Furthermore, the mRNAs encoding both P210bcr/abl and P190bcr/abl were detected in the late stage of ANLL transformation when the Ph1 chromosome was detected by cytogenetic analysis. These evidences support a multistep pathogenesis of leukaemias, and the products of bcr/abl fusion gene may influence the course of disease.
我们描述了一名源自骨髓增生异常综合征的急性非淋巴细胞白血病（ANLL）患者，其费城染色体（Ph1）在ANLL转化的晚期首次出现。细胞遗传学上，直到ANLL转化晚期，即在伴有过多原始细胞的难治性贫血病史3个月后转化14个月时，才检测到Ph1染色体。带有和不带有Ph1染色体的细胞都有一条共同的异常染色体，即t(3;3) (q21;q26)。逆转录-聚合酶链反应分析显示，诊断时未检测到bcr/abl信息。然而，在ANLL转化早期检测到了编码P210bcr/abl的mRNA。此外，当通过细胞遗传学分析检测到Ph1染色体时，在ANLL转化晚期同时检测到了编码P210bcr/abl和P190bcr/abl的mRNA。这些证据支持白血病的多步骤发病机制，并且bcr/abl融合基因的产物可能影响疾病进程。
