目的应用荧光原位杂交技术(FISH)检测尿脱落上皮细胞遗传学改变,探讨其在尿路上皮癌诊断中的价值。方法 279例患者分为血尿患者139例,尿路占位患者64例,尿路上皮癌术后患者57例和其他泌尿系统疾病患者19例,均应用FISH技术检测尿脱落上皮细胞3、7、17号染色体着丝粒和9p21位点遗传学改变,与膀胱镜活检或手术组织病理结果进行对照,计算并比较FISH技术在不同组间诊断尿路上皮癌的敏感度和特异度。结果膀胱镜活检或手术组织病理确诊恶性肿瘤64例,其中尿路上皮癌56例,肾细胞癌5例,肾脏转移性恶性肿瘤2例,发现异型细胞1例;215例膀胱镜活检组织病理未查见恶性细胞。FISH技术诊断阳性76例,阴性203例,其中假阳性29例,假阴性9例,诊断尿路上皮癌的敏感度为83.93%(47/56),特异度为87.00%(194/223);对尿路上皮癌术后、尿路占位、血尿及其他泌尿系统疾病患者,FISH技术诊断尿路上皮癌的敏感度分别为100%(9/9)、82.35%(28/34)、81.82%(9/11)和50%(1/2);特异度分别为83.33%(40/48)、86.67%(26/30)、89.06%(114/128)和82.35%(14/17)。结论对于血尿或尿路上皮癌术后的患者应用尿脱落上皮细胞FISH技术诊断具有较高的敏感度和特异度,尤其适用于尿路上皮癌术后复发的患者。 Objective To detect the genetic changes of urine exfoliated epithelial cells by fluorescence in situ hybridization (FISH), and to explore its value in the diagnosis of urothelial carcinoma. Methods A total of 279 patients were divided into three groups: 139 cases of hematuria, 64 cases of urinary tract occupancy, 57 cases of postoperative urothelial carcinoma and 19 cases of other urological diseases. FISH was used to detect urine exfoliated epithelial cells 3,7, The chromosome 17 centromere and chromosome 9p21 genetic changes, and cystoscopy biopsy or surgical histopathological results were compared, calculated and compared FISH in the diagnosis of different groups of urothelial carcinoma sensitivity and specificity. Results Cystoscopy biopsy or surgical histopathological diagnosis of 64 cases of malignant tumors, including urothelial carcinoma in 56 cases, renal cell carcinoma in 5 cases, 2 cases of renal metastatic malignancy, found in 1 cases of abnormal cells; 215 cases of cystoscopy biopsy See malignant cells. There were 76 positive cases and 203 negative cases in FISH diagnosis, of which 29 cases were false positives and 9 cases false negatives. The sensitivity and specificity of FISH were 83.93% (47/56) and 87.00% (194/223) respectively. The sensitivity of FISH for the diagnosis of urothelial carcinoma was 100% (9/9), 82.35% (28/34), 81.82% for urothelial carcinoma, urinary tract occupying, hematuria and other urinary system diseases respectively The specificities were 83.33% (40/48), 86.67% (26/30), 89.06% (114/128) and 82.35% (14/17), respectively . Conclusions For patients with hematuria or urothelial carcinoma postoperatively, it is more sensitive and specific to diagnose urothelial cells using FISH, especially for patients with recurrent urothelial carcinoma after operation.