慢性髓细胞白血病患者染色体分析及bcr／abl融合基因转录本定量的临床意义  

Chromosome analysis and quantification of bcr-abl fusion gene transcripts in patients with chronic myeloid leukemia: Value of clinical application

作　　者：邓明凤[1] 王昌富[1] 张万胜[1] 李琳芸[1] 彭长华[1] 陈永玲[1] 

机构地区：[1]华中科技大学同济医学院附属荆州医院医学检验部,湖北荆州434020

出　　处：《临床检验杂志》2006年第3期179-181,共3页Chinese Journal of Clinical Laboratory Science

摘　　要：目的探讨慢性髓细胞白血病(CML)患者染色体分析与bcr／abl融合基因定量的临床应用价值。方法17例CML患者采用骨髓细胞短期培养法制备染色体,应用G、R显带技术进行染色体分析,同时采用实时定量RT-PCR技术进行bcr／abl融合基因定量检测,并对其中的9例患者进行了跟踪观察。结果全部患者均检出Ph染色体及表达bcr／abl融合基因,阳性患者之间19cr／abl表达水平差异很大。常规药物治疗后稳定于慢性期的4例患者,bcr／bal表达水平轻度上升或下降,未发现新的染色体异常;进入急变期的3例患者bcr／abl表达平均上升了9．06倍,均出现新的附加染色体异常;2例异基因骨髓移植的患者bcr／abl表达水平随临床治疗而发生变化;bcr／abl变化趋势相同而细胞遗传学结果不同的患者,对药物治疗的反应不同,预后也不一样。结论染色体分析结合bcr／abl基因定量较为全面地反映了CML患者的生物学特性,与疾病进展密切相关,对CML的诊断、疗效评价、预后判断反映白血病细胞负荷有较大的临床价值。Objective To explore the clinical value of chromosome analysis and quantification of bcr-abl fusion gene transcripts in patients with chronic myeloid leukemia（CML）. Methods The bone marrow cells were collected from 17 CML patients on their first visitand before every treatment. The chromosomes were obtained after short-time of cell culture and then analyzed under microscope after Gbanding and R-banding. At the same time transcripts of bcr/abl gene was quantified by real time fluorescence quantification RT-PCR.Track observations for 9 patients were performed. Results Ph chromosomes and bcr/abl gene transcripts were detected in all patients,but great variation existed among these patients in the level of bcr/abl gene. After routine treatment,the levels of bcr/abl gene in 4 patients were in stable status with slight increase or decrease and no additional abnormal chromosomes appeared. The level of bcr/abl geneincreased averagely 9.06 times in 3 patients who experienced deterioration from chronic phase to acute phase and additional abnormalchromosomes appeared in all the 3 patients. In 2 patients who were given allogeneic bone marrow transplantation, the expression level ofber/abl gene changed with the clinical treatment. The patients with the same variance of ber/abl gene expression and different chromosome analysis results responded differently to chemotherapy and the prognosis was also different. Conclusions Chromosome analysiscombined with quantification of bcr/abl gene provide a good way to display the status of CML patients and was highly correlated to thedevelopment of the disease,and was significant for diagnosis of CML and evaluation of leukemia call load,as wall as for treatment andprognosis.

关 键 词：慢性髓细胞白血病 PH染色体 BCR/ABL融合基因 定量PCR 

分 类 号：R733.7[医药卫生—肿瘤] R956.1[医药卫生—临床医学]