慢性粒细胞白血病发病机制的研究

STUDY ON THE MECHANISM OF CHRONIC MYELOCYTIC LEUKEMIA

为探讨慢性粒细胞白血病（ＣＭＬ）的发生及发展机制。对４３例不同疾病阶段的患者进行了细胞遗传学的研究，发现９２％的初治及７３％的治疗后患者存在Ｐｈ染色体，６５％的加速期及急变期患者还伴有附加染色体改变；同时对３７例患者进行了分子生物学的检测，９５％的患者存在ｂｃｒ／ａｂｌ融合基因，其中包括４例Ｐｈ阴性患者，融合基因持续存在于整个病程中，且转录本ｂ２ａ２及ｂ３ａ２同样可见，未发现有ｅ１ａ２。结果表明ＣＭＬ的发生及进展存在着特异性的细胞遗传学及分子生物学基础，ｂｃｒ／ａｂｌ融合基因检测是ＣＭＬ诊断最灵敏且特异的方法。

To study on the pathogenesis and the mechanism of evolution of chronic myelogenous leukemia(CML), cytogenetic analysis was performed in 43 cases of CML in different clinical stages, it was showed that 92% patients before therapy and 73% patients after therapy had Ph chromosome and 65% patients in acceleration or acute phase also had extra chromosomal abnormalities. Meanwhile molecular study was introduced in 37 cases and the BCR/ABL fusion gene was detected in 95% of them, of which 4 were Ph negative. The fusion gene persisted in the whole course and its two isoforms b2a2 and b3a2 could equally be seen, transcript ela2 was not found. All the above results suggested that there existed a specific molecular and cytogenetic basis in the pathogenesis and clinical evolution of CML, and detection of BCR/ABL fusion gene was the most sensitive and specific method in the diagnosis of CML, but had less prognostic significance.