荧光定量PCR检测膀胱癌患者尿沉淀细胞TWIST1基因启动子甲基化状态的临床价值
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Detection of the TWIST1 promoter methylation state through fluorescent quantitative PCR in urine sediments of bladder cancer
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    目的:评估尿沉淀细胞TWIST1基因启动子甲基化状态在膀胱癌诊断中的价值-方法:用实时荧光定量PCR的方法,对50例临床确诊的膀胱癌患者-13例非肿瘤性尿路疾病患者-7例健康志愿者检测了尿沉淀细胞TWIST1基因启动子的甲基化状态;同时行尿脱落细胞学检查-结果:50例膀胱癌患者中尿脱落细胞TWIST1基因启动子甲基化阳性率为64.0%(32/50),对照组均未发现甲基化改变,两者比较差异有统计学意义(P < 0.01)-TWIST1基因启动子甲基化率有随组织分期升高的趋势,但在不同分级-分期膀胱癌中的差异无显著性-实时荧光定量PCR法检测尿液中TWIST1基因启动子甲基化的敏感性和特异性分别为64.0%-100.0%-而尿脱落细胞学检查阳性率为48.0%(24/50),其敏感性和特异性分别为48.0%和100.0%-结论:尿脱落细胞TWIST1基因启动子的甲基化检测诊断膀胱癌敏感性和特异性均较高,且无创-无痛苦,可作为早期诊断膀胱癌的敏感指标-

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    Objective:To assess the TWIST1 promoter methylation state in urine sediments and evaluate their value in diagnosis of bladder cancer. Methods: Fifty patients with bladder cancer,13 patients with non tumorous urinary disease and 7 healthy volunteers were recruited in the study. The TWIST1 promoter methylation state in urine sediments was determined by real-time fluorescent quantitative PCR. The urine exfoliative cytologic examination was also performed. Results: The positive rate of TWIST1 promoter methylation was 64.0%(32/50) in exfoliated urothelial cells of 50 patients with bladder cancer, no one showed positive TWIST1 promoter methylation in the control group. The difference in the positive rate of TWIST1 promoter methylation between two groups was significant(P < 0.01). TWIST1 promoter methylation status did not correlate with stage and grade of bladder cancer,though there was a trend that more frequent methylation was detected in higher stage bladder cancer. The sensitivity of detecting TWIST1 promoter methylation by real-time fluorescent quantitative PCR in the diagnosis of bladder cancer was 64.0%,and specificity was 100%. The positive rate of urine exfoliative cytology was 48.0%(24/50),and sensitivity and specificity were 48.0% and 100.0% respectively. Conclusion: It has high sensitivity and specificity to detect the TWIST1 promoter methylation in exfoliated urothe1ial cells for the diagnosis of bladder cancer. The TWIST1 promoter methylation might be a potential biomarker for the noninvasive and painless detection method in early diagnosis of bladder cancer.

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陆 明,钱 麟,潘 彬,陈建刚,赵 枰.荧光定量PCR检测膀胱癌患者尿沉淀细胞TWIST1基因启动子甲基化状态的临床价值[J].南京医科大学学报(自然科学版),2012,(3):395-398

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  • 收稿日期:2011-11-25
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