摘要:
目的：检测尿路上皮肿瘤患者尿液脱落细胞染色体的缺失和非整倍异常，探讨FISH技术作为尿路上皮肿瘤患者无创诊断方法的价值。方法：收集可疑尿路上皮肿瘤患者和健康对照人群的新鲜尿液，同步进行细胞形态学分析及荧光原位杂交（Fluorescence in situ hybridization， FISH） 检测3号、7号及17号染色体、9号染色体p16位点异常。共入选可疑尿路上皮肿瘤患者100例，正常健康对照组20例，采用正常对照组患者各染色体异常数据设定阈值用于肿瘤患者的实验室诊断。根据检验结果与病理结果对照分别计算FISH和脱落细胞的敏感度和特异度并进行统计学分析。结果：与正常对照组相比，尿路上皮肿瘤患者尿液脱落细胞染色体异常明显增多。尿脱落细胞学的敏感度和特异度分别为71%和80%，FISH的敏感度和特异度分别为88%和80%（P<0.01）。根据两种检测方法的敏感度和特异度绘制的接受者工作特征（ROC）曲线显示尿脱落细胞学和FISH的曲线下面积分别为0.758和0.842。结论：对可疑尿路上皮肿瘤的患者进行FISH检测是一种有价值的无创检测方法。FISH的总体敏感度高于尿脱落细胞学，特异度与尿脱落细胞学相当。
Abstract:
Application of Fluorescence in situ Hybridization in the Diagnosis of Urothelial CarcinomaYiWANG, Guang SUN, Xiaoqiang LIU, Yan SUN, Chenguang LI, ChangliWU, FanWANGCorrespondence to: Guang SUN, E-mail: soloriver@163.comDepartment of Urology, The Second Hospital of Tianjin Medical University, Tianjin Institute of Urology, Tianjin 300211, ChinaThis work was supported by Scientific Funds of Ministry of Public Health (WKJ2007-3-001)Abstract Objective: To detect chromosomal aneuploidy in the urine cells of patients with urothelial carcinoma and to evaluatethe results of fluorescence in situ hybridization ( FISH ) as a non-invasive diagnostic method for detecting urothelial carcinoma. Meth-ods: Fresh urine samples from 100 patients suspected of having urothelial carcinoma and 20 healthy subjects ( controls ) were collected,and urine cytology and FISH were conducted. Abnormalities on chromosome 3, 7, 17 and 9p21 ( p160 ) were found by FISH. Throughthe comparison and statistical analysis of the experimental results and pathology, the sensitivity and specificity of the two methods wereestablished, as well as a threshold for the difference between high and low-grade carcinoma. Results: Urine samples of patients withurothelial carcinoma have many more chromosomal abnormalities than samples from the control group. The sensitivity and specificityof urine cytology were 71% and 80%, respectively. The sensitivity and specificity of FISH were 88% and 80%, respectively ( P <0.01 ). The sensitivity of FISH was higher than urine cytology. The receiver operating characteristic ( ROC ) curve was drawn using thesensitivity and specificity data. The areas under the curve were 0.758 for urine cytology and 0.842 for FISH. Conclusion: FISH is avaluable and non-invasive detecting method for patients suspected of having urothelial carcinoma. The overall sensitivity of FISH ishigher than that of urine cytology, but the specificity of the two methods is similar.Keywords FISH; Urothelial carcinoma; Bladder cancer; Diagnosis; Sensitivity
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