【摘要】 目的:评价荧光原位杂交(fluorescence in situ hybridization, FISH)检查作为一种无创方法辅助诊断上尿路尿路上皮癌(upper tract urothelial carcinoma, UTUC)的临床应用，并评价FISH检查解决细胞学检查结果中定义不明确但常用的不典型类别的局限性的价值。方法:回顾性分析2017年10月—2023年3月梅州市人民医院连续纳入的可疑UTUC经输尿管镜检查及病理活检明确诊断并术前行细胞学检查及FISH检查的136例患者的临床资料，其中肾盂或输尿管尿路上皮癌119例，良性病变17例。比较细胞学检查及FISH检查对UTUC诊断的灵敏度和特异度；对于细胞学检查结果归入不典型细胞学类别的病例，绘制FISH检查的受试者工作特征(receiver operator characteristic curve, ROC)曲线，评价FISH检查解决这类局限性的价值。结果:细胞学检查及FISH检查对UTUC诊断的灵敏度分别为24.4%、67.2%;特异度分别为100%、94.1%,FISH检查对UTUC诊断优于细胞学检查(χ~2=13.862,P<0.01)。对细胞学检查结果归类为不典型类别的病例，FISH检查对UTUC诊断的灵敏度为74.4%,特异度为100%:阳性预测值为100%;阴性预测值为15.4%;ROC曲线下面积(area under ROC,AUC)为0.872(95%置信区间：0.737～1.000)。结论:FISH检查对UTUC诊断优于细胞学检查，可作为术前诊断UTUC的无创诊断方法之一；FISH检查可以成为解决细胞学检查结果定义不明确但常用的不典型细胞学类别的局限性的有用工具。更多还原

【Abstract】 Objective: To evaluate the clinical utility of fluorescence in situ hybridization(FISH) in the detection of upper tract urothelial carcinoma(UTUC). Methods: From October 2017 to March 2023, 136 cases of consecutive patients with suspected UTUC and confirmed by pathologic diagnosis were enrolled.There were 119 cases of renal pelvis or ureteral urothelium carcinoma and 17 cases of benign lesions. Sensitivity and specificity of FISH test and cytology were determined and compared. For cases classified as atypical cytological categories that were not clearly defined but commonly used in cytology, receiver operator characteristic curve(ROC) was drawn for FISH examination to evaluate the value of FISH in interpreting these limitations. Results: For FISH analysis, the sensitivity was 67.2% and specificity was 94.1%.For cytology, the sensitivity was 24.4% and specificity was 100%. FISH was superior to cytology on the performance for diagnosis of UTUC(χ~2=13.862, P<0.01).For cases classified as atypical by cytology, the sensitivity and specificity of FISH were 74.4%, 100%, respectively. The positive predictive value was 100%.The negative predictive value was 15.4%.The area under the ROC curve(AUC) was 0.872(95% confidence interval: 0.737-1.000). Conclusion: FISH has superior sensitivity and similar specificity in the detection of UTUC, compared with cytology. In patients with equivocal cytology, a reflex FISH assay may help avoid unnecessary evaluation while identifying those who would need further evaluation.更多还原