尿脱落细胞FISH检测在恶性血尿病因诊断中的应用

The Application of Fluorescence in Situ Hybridization in the Etiological Diagnosis of Malignant Hematuria

目的:比较尿脱落细胞荧光原位杂交(Fluorescence in situ hybridzation,FISH)检测、细胞学分析和膀胱镜对恶性血尿诊断的临床有效性及应用价值,为建立或完善恶性血尿病因诊断提供理论基础。方法:10例正常人通过FISH技术检测9号染色体p16位点、3号染色体、7号染色体及17号染色体的变异情况,建立FISH检测尿脱落细胞的方法学平台及标准检测方法同时确立阈值。同时收集100例血尿患者晨尿同步进行细胞学分析、膀胱镜检查及FISH检测。以组织病理确诊为膀胱尿路上皮癌为金标准,评估FISH诊断的特异度和敏感度及与膀胱癌发生及发展的关系。结果:FISH诊断尿路上皮癌的特异度为86.1%,敏感度为89.1%;尿细胞学诊断的特异度为97.2%,敏感度为23.4%。两者相比,敏感度差异有统计学意义(P<0.05),而特异度差异无统计学意义(P>0.05)。结论:与尿细胞学相比,FISH在恶性血尿病因的诊断中具有较高的灵敏度和相似的特异度,同时无创快速,可作为筛查和诊断尿路上皮癌的新方法。

Objective： To evaluate the effectivity and value of fluorescence in situ hybridization（FISH） technique in the diagnosis of malignant hematuria, meanwhile to provide the theoretical basis for establishing or impro ving the diagnosis of malignant hematuria. Methods：Labeled probes for chromosomes 3, 7, 9 and 17 were used to assess chromosomal abnormalities by FISH from 10people without haematuria and established the threshold, the other 100 urine samples from people with haematuria were analyzed by FISH and cytology at the same time. The gold standard was pathology diagnosis. The sensitivity and specificity of FISH were evaluated and compared with Cytological examination. Results：The sensitivity of FISH and cytology in detection urothelial cancer are 74.7 % and 46.0% respectively and the specificity are 92.3% and 100% respectively. When comparing the two examination there is a significant difference between the sensitivity of FISH and cytology（P〈0.05）. Conclusions： Compared to cytological examination the FISH assay has a higher sensitivity and a similar specificity in the detection of urotheli al cancer, and the non-in-vasiveness,the fastness making it could be used as a new method in the early detection of urothelial cancer.