Mourah S, Cussenot O, Vimont V, Desgrandchamps F, Teillac P, Cochant-Priollet B, Le Duc A, Fiet J, Soliman H
Département de Biologie Hormonale, Centre Hospitalier Universitaire Saint Louis, Université Paris VII, France.
Int J Cancer. 1998 Dec 18;79(6):629-33. doi: 10.1002/(sici)1097-0215(19981218)79:6<629::aid-ijc13>3.0.co;2-1.
Loss of heterozygosity (LOH) and alterations in microsatellite DNA markers have been reported in bladder-cancer tumors. We have studied, in a blinded fashion, using PCR-based microsatellite analysis, genetic alterations of cells exfoliated in urine of 59 Caucasian patients and control patients; 31 with initially confirmed bladder transitional-cell carcinoma (TCC), 17 with signs and symptoms suggestive of bladder cancer, 6 control patients who underwent renal transplantation, and 5 control patients with urolithiasis. Microsatellite analysis of cells exfoliated in the urine allowed the diagnosis of 83% (10/12) of patients with bladder TCC recurrence confirmed by cystoscopy, while 100% of patients followed up for transitional-cell carcinoma of the bladder for up to 12 months without evidence of tumor recurrence upon routine cystoscopy showed no microsatellite alterations. None of the patients without neoplasia (negative controls) had any microsatellite alterations, whereas all patients who underwent renal transplantation had additional new alleles corresponding to contamination with donor's renal and urothelial cells (positive controls). No control patients had any evidence of transitional-cell carcinoma by cystoscopy. Our results provide objective evidence that non-invasive molecular detection of bladder TCC by microsatellite analysis is reproducible with a sensitivity of 83% and a specificity of 100% in Caucasian patients. This non-invasive procedure represents a potential clinical tool for the detection and the screening of bladder TCC.
膀胱癌肿瘤中已报道存在杂合性缺失（LOH）和微卫星DNA标记改变。我们采用基于聚合酶链反应（PCR）的微卫星分析，以盲法研究了59例白种人患者及对照患者尿液中脱落细胞的基因改变；其中31例最初确诊为膀胱移行细胞癌（TCC），17例有提示膀胱癌的体征和症状，6例接受肾移植的对照患者，以及5例患有尿石症的对照患者。对尿液中脱落细胞进行微卫星分析，可诊断出83%（10/12）经膀胱镜检查确诊为膀胱TCC复发的患者，而在常规膀胱镜检查未发现肿瘤复发迹象、随访长达12个月的膀胱移行细胞癌患者中，100%未显示微卫星改变。无肿瘤患者（阴性对照）均无微卫星改变，而所有接受肾移植的患者都有与供体肾和尿路上皮细胞污染相对应的额外新等位基因（阳性对照）。膀胱镜检查未发现对照患者有任何移行细胞癌迹象。我们的结果提供了客观证据，表明通过微卫星分析对膀胱TCC进行非侵入性分子检测在白种人患者中具有可重复性，敏感性为83%，特异性为100%。这种非侵入性程序是检测和筛查膀胱TCC的一种潜在临床工具。
