双色荧光原位杂交技术在膀胱尿路上皮肿瘤诊断中的应用价值

Diagnostic application value of urothelial carcinoma of the urinary bladder by dual color fluorescence in-situ hybridization

目的探讨双色荧光原位杂交技术（FISH）诊断膀胱尿路上皮肿瘤的临床应用价值。方法标记为3、7、17号染色体着丝粒及9号染色体p16位点9p21区带探针，采用FISH对80例膀胱尿路上皮肿瘤患者尿液间期细胞核进行FISH，同时选取20例健康体检者作为正常对照组，建立阈值，以组织病理结果作为诊断“金标准”，统计染色体畸变情况，分析其与病理分期、分级的关系以及染色体畸变组合诊断膀胱尿路上皮肿瘤的敏感性。结果3、7、17号染色体和9p21的畸变率分别为47．5％（38／80）、60．7％（49／80）、51．3％（41／80）和58．8％（47／80），3、7、9和17号染色体联合检测膀胱癌的阳性率为76．3％（61／80），畸变和肿瘤分期无相关性，3、7、17号染色体与肿瘤病理分级有显著相关性（P〈0．05）。结论膀胱尿路上皮肿瘤的进展可能与染色体的畸变有关，FISH可以作为膀胱尿路上皮肿瘤诊断的一项重要方法，并可能在术后监测复发以及预后判断中具有重要临床意义。

Objective To evaluate the clinical application value of dual color fluorescence in-situ hybridization （FISH） in detecting urothelial carcinoma of the urinary bladder. Methods The probes of chromosome 3, 7, 17centromeres and chromosome 9p21 region （p16） were labeled by random primer method. FISH was performed on interphase nuclei of 80 urine specimens of cancer of the urinary bladder and 20 cases of healthy persons served as normal controls. Threshold value was established. The pathological diagnosis was the ＂golden standard＂. Chromosome aberration was counted. The correlations between chromosome aberration and pathologic grading and staging and their sensibility of diagnosis for urothelial carcinoma of the urinary bladder were analyzed. Results The rate of numerical aberration of chromosome 3, 7, 17, 9p21 was 47. 5% （38/80） ,60.7% （49/80）, 51.3% （41/80） and 58.8% （47/80） respectively. The positive rate of the combined use of 3, 7, 17 and 9p21 chromosome probes for detecting urothelial carcinoma of urinary bladder was 76.3% （61/80）. The aberrations had no correlation to tumor stage. The aberration of chromosome 3, 7 and 17 were correlated to pathologic grade significantly （ P 〈 0.05 ）. Conclusion The progression of urothelial carcinoma of the urinary bladder is related to the aberrations of chromosome. FISH is believed to be a very important method in diagnosis of urothelial carcinoma of the urinary bladder, which may have important clinical significance for the postoperative recurrence detection and prognosis.