Bcr/abl融合基因及Ph染色体检测在慢性髓系白血病中的临床意义

The Clinical Significance of bcr/abl Fusion-gene Expression and Philadelphia Chromosome in Chronic Myeloid Leukemia

目的 探讨慢性髓系白血病 (CML)细胞中Ph染色体阳性细胞与bcr/abl融合基因表达之间的关系及临床意义。方法 用热变性姬姆萨R显带 (RHG)技术和逆转录筑巢式聚合酶链反应 (RT -nest -PCR)对 171例CML患者的骨髓或外周血单个核细胞进行了分析 ,并对其中 17例行异基因骨髓移植 (Allo -BMT)患者进行短期随访。结果 15 4例未经异基因造血干细胞移植 (allo -PBSCT)的CML患者中 14 2例( 92 2 % )为Ph染色体阳性 ,14 6例 ( 94 8% )表达bcr/ablmRNA ,2种方法结果一致者 14 2份 ( 92 2 % )。 17例患者allo -BMT后 1～ 2 4个月 ,仅 1例出现Ph阳性 ,12月后RT -PCR分析结果 10例阴性 ,7例阳性。结论 2种方法各有其优缺点 ,在CML患者的诊断和治疗监测中 ,宜将细胞遗传学分析与PCR方法相结合。allo -BMT是目前治疗CML的最佳方法之一。

Objective To define the relationship between bcr/abl mRNA expression and positive rate of Philadelphia chromosome in chronic myeloid leukemia (CML), and to explore its clinical significance. Methods Mononuclearcells from bone marrow or peripheral blood samples from 171 patients with CML were analyzed for bcr/abl mRNA expression with reverse heat treatment giemsa band (RHG) technique and Philadelphia chromosome with reverse transcription nested polymerase chain reaction (RT-nested-PCR) method. And 17 patients with allogenetic bone marrow transplantation (Allo-BMT) were followed up. Results Among 154 patients with CML who didnt receive allo-BMT, 142 (92.2%) patients were positive for Philadelphia chromosome detection, 146 (94.8%) patients expressed bcr/abl mRNA, which were consistent in 142 (92.2%) patients. Among 17 patients with CML who received allo-BMT, 1 patient was positive for Philadelphia chromosome detection after 2-year follow-up, and 7 patients expressed bcr/abl mRNA by RT-PCR analysis after 1-year follow up. Conclusions There are some advantages and disadvantages for both methods, which should be connectively used in diagnosis and monitor in patients with CML. At present, allo-BMT is one of the best methods for the treatment of CML.