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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。
Objective: To evaluate the methylation status of urinary sediment cell TWIST1 promoter in the diagnosis of bladder cancer. Methods: The methylation status of TWIST1 promoter in urine sediment cells was detected by real-time fluorescence quantitative PCR in 50 clinically diagnosed bladder cancer patients, 13 non-neoplastic urinary tract disease patients and 7 healthy volunteers. At the same time, urine cytology. Results: The positive rate of TWIST1 promoter methylation in urinary exfoliated cells in 50 cases of bladder cancer was 64.0% (32/50), no change of methylation was found in the control group, the difference was statistically significant (P < 0.01). The methylation rate of TWIST1 gene promoter tended to increase with tissue staging, but there was no significant difference in different grade and stage of bladder cancer. The sensitivity and specificity of real-time PCR for the detection of TWIST1 promoter methylation in urine were 64.0% and 100.0%, respectively. The positive rate of exfoliative cytology was 48.0% (24/50), with a sensitivity and specificity of 48.0% and 100.0%, respectively. CONCLUSION: Methylation detection of TWIST1 promoter in urine exfoliated cells has high sensitivity and specificity in diagnosis of bladder cancer. It is noninvasive and painless and can be used as a sensitive indicator for early diagnosis of bladder cancer.