荧光原位杂交技术在尿路上皮肿瘤诊断中的临床应用

Application of fluorescence in situ hybridization technique in diagnosis of urothelial tumor

目的探讨通过荧光原位杂交检测3、7和17号染色体及p16位点异常在预测尿路上皮肿瘤的临床应用价值。方法收集尿路上皮肿瘤患者和健康成人作正常对照组尿液,同时行尿脱落细胞学及FISH检测3、7、17号染色体及p16位点异常。采用正常对照组各染色体异常数据设定阈值用于肿瘤患者的实验室诊断。分别计算FISH和尿脱落细胞对尿路上皮肿瘤诊断的敏感度和特异度。分析各染色体畸变与尿路上皮肿瘤病理分级的关系。结果 1尿脱落细胞学检查的肿瘤阳性检出率为11.5%,FISH为97.1%,两者差异有统计学意义(P<0.01)2各染色体及区带均呈现较高的畸变发生率,其中多体畸变发生率由高到低依次为82.6%(7号)、71.7%(17号)、66.6%(3号)和49.2%(p16位点),单体畸变发生率由高到低依次为53.6%(p16位点)、36.9%(7号)、34.7%(3号)和28.9%(17号),单体缺失畸变p16位点17.3%。37号染色体的多体畸变与肿瘤的病理分级间呈正相关(r=18.632,P<0.001),其余三种染色体畸变与肿瘤的病理分级无相关性。结论对尿路上皮肿瘤患者进行FISH检侧是一种无创、有效的检测方法。尿路上皮肿瘤在3、7和17号染色体及p16位点同时存在多种畸变类型,7号染色体多体畸变可预测尿路上皮肿瘤的进展。

Objective To investigate the role of fluorescence in situ hybridization technician in the diagnosis of urothelial tumors.Methods FISH diagnostic threshold was established by 20 cases of healthy adults.138 cases of urothelial cancer patients were performed urine cytology and FISH detection of chromosome 3,7and 17 and abnormal p16 locus,the diagnostic value of two methods and the relationships between chromosomal aberrations and pathological grade were analyzed.Results The sensitivity of Urine cytology and FISH was 11.5% and 97.1% respectively,the difference was statistically significant（P〈0.01）.Each chromosome and zone showed a higher incidence of distortion.The incidence of multiple aberrations were 82.6%（7）,（17）71.7%,66.6%（3）and 49.2%（p16）.The incidence of monomer distortion were 53.6%（p16）,36.9%（7）,34.7%（3）and 28.9%（17）.The incidence of p16 locus monomer distortion rate was 17.3%.The 7th chromosome multi-body aberrations was positively correlated with tumor pathological grade（r=18.632,P〈0.001）.Conclusion FISH is a noninvasive and effective detection method for urothelial tumors.The multi-body aberration of 7th chromosome is predictable for progress of urothelial tumors.