荧光原位杂交技术在膀胱癌诊断中的临床应用

Research on the application of fluorescence in situ hybridization in diagnosis of urinary bladder cancer

目的应用荧光原位杂交技术(FISH)检测膀胱尿路上皮癌患者尿液脱落细胞中染色体异常,探讨FISH在膀胱尿路上皮癌诊断的可行性。方法 2007年10月至2009年4月,随机留取20例正常人群的新鲜尿液及91例疑似尿路移行上皮肿瘤患者的肉眼血尿,其中男性66例,女性25例。同时行FISH检测和尿液脱落细胞学分析,FISH检测使用荧光标记DNA探针混合物与细胞核上3、7、17号染色体及9p16位点杂交,并与病理检查结果进行比较。结果 91例行FISH检测的患者,通过膀胱镜活检或手术后病理检查明确诊断为膀胱癌患者83例,其敏感度为97.6%,特异度为92.9%。G1、G2、G3级敏感性分别为93.8%9、7.9%、100%,Ta、T1、T2、T3-4各期的敏感度分别为75%、91.7%、100%、100%。尿脱落细胞学总的敏感度为43.4%,特异度为92.9%。结论 FISH的检测为膀胱尿路上皮癌的早期诊断提供了快速、安全、灵敏度高的非侵犯性检测方法。

Objective To evaluate the clinical value of fluorescence in situ hybridization（FISH） assay in voided urine specimens for detection of bladder cancer.Methods From October 2007~April 2009,morning voiding urine of 91 hematuria patients（66 male and 25 female） and 20 normal cases,urologic nonmalignant diseases were obtained for urine cytology and FISH analysis.The pathological results with the cytological and FISH findings was compared.FISH assay was performed using a mixture of fluorescent labeled DNA probes for the centromeric regions of chromosomes 3,7,17 and the 9p16 region.Results A total of 83 biopsies showed urinary bladder cancer in the 91 patients,the sensitivity was 97.6%,and specificity was 92.9%.The sensitivity and specificity for urinary cytology were 43.4% and 92.9%.Conclusions FISH is used for the diagnosis and monitoring of bladder cancer with high sensitivity and specificity,it is the early diagnosis of bladder cancer and recurrence monitoring of an extremely sensitive method of molecular diagnostics.