尿脱落细胞荧光原位杂交检查阳性在尿路上皮癌中的临床价值

目的：分析尿脱落细胞荧光原位杂交（fluorescence in situ hybridization, FISH）检查阳性的临床病理特点，评估FISH诊断尿路上皮癌（urothelial carcinoma, UC）的临床应用价值。方法：对北京大学第一医院泌尿外科2012年4月至2015年9月收治的271例FISH检查阳性患者的临床资料进行回顾性研究分析。通过与尿脱落细胞学、膀胱镜和输尿管镜检查相比较，总结分析FISH阳性病例的临床病理特点，采用卡方检验对肿瘤的分期和分级进行比较。结果：在FISH检查阳性的病例中，FISH诊断尿路上皮癌的阳性预测值（positive predict value, PPV）为76.4%，其95%可信区间（confidence interval, CI）为71.3%~81.5%，与尿脱落细胞学检查结果（PPV 86.8%，95% CI: 78.5%~95.0%）相近，而低于膀胱镜及输尿管镜检查结果（PPV 96.1%，95% CI: 91.7%~100.0%）。FISH的PPV显著高于国外报道（53.9%）， 差异有统计学意义（χ2=33.048, P<0.001）。尿脱落细胞学检查阳性组和阴性组在尿路上皮癌的肿瘤大小、病理分期和分级方面差异没有统计学意义。FISH检测阳性的输尿管癌中，高级别尿路上皮癌占92.3%，与国内的相关报道相比差异有统计学意义。结论：FISH的PPV相对较高，有助于尿路上皮癌的诊断，FISH检查阳性的输尿管癌临床病理分级更高，可考虑行根治性手术并加强术后的随访监测。

Clinical value of fluorescence in situ hybridization positive of exfoliated urothelial cells in urothelial carcinoma

Objective: To analyze the clinical pathologic characteristics of cases with fluorescence in situ hybridization (FISH) positive of exfoliated urothelial cells, so as to evaluate the clinical utility of FISH in the diagnosis of urothelial carcinoma (UC).Methods: A total of 271 cases of FISH positive in Department of Urology of Peking University First Hospital from Apr.2012 to Sep.2015 were recruited in this study.Retrospective analysis was made on their clinical data.For FISH analysis, labeled probes specific for chromosomes 3, 7, 17, and the p16 (9p21) gene were used to assess chromosomal abnormalities indicative of malignancy.The positive predict values (PPV) of all the techniques were analyzed.Results: Of the 271 patients, 207 cases were UC, 7 cases were non-UC, and 57 cases were benign diseases.The PPV of FISH in detecting UC was 76.4%, while the 95% confidence interval (CI) 71.3% to 81.5%.In the cohort of FISH positive, this value was similar to that of urinary cytology (PPV 86.8%, 95% CI: 78.5%-95.0%).The PPV of FISH was lower than that of cystoscopy and ureteroscopy (PPV 96.1%, 95% CI: 91.7%-100.0%).There were significant differences between this study and the PPV of FISH reported abroad (PPV 53.9%, χ2=33.048, P<0.001).Of all the UC with FISH positive, bladder cancer showed an earlier pathological stage versus renal pelvic carcinoma and ureteral carcinoma, with significance (χ2=5.894, P=0.015, and χ2=13.601, P<0.001, respectively).However, no difference was found in the size, pathological stage and pathological grade of tumors between the urinary cytology positive group and the urinary cytology negative group.The rate of high-grade UC in ureteral carcinoma of FISH positive was 92.3%, much higher than that of ureteral carcinoma reported domestically.Conclusion: The PPV of FISH in detecting UC is higher relatively, with a better clinic value for Chinese patients.The ureteral carcinoma with FISH positive obtains a higher pathological grade, which is of great guiding significance for UC.