染色体3、7、17号和9p21位点在膀胱尿路上皮癌中的畸变情况及其临床意义  

Aberrations of chromosomes 3,7,17 and 9p21 locus and its clinical significance in urothelial carcinoma of bladder

作　　者：李莉[1] 丁奕星[2] 徐苓[1] 马妍慧[1] 张良[2] 

机构地区：[1]上海交通大学医学院附属新华医院检验科,上海200092 [2]上海交通大学医学院附属新华医院泌尿外科,上海200092

出　　处：《诊断学理论与实践》2012年第1期47-51,共5页Journal of Diagnostics Concepts & Practice

摘　　要：目的:应用UroVysion染色体及基因异常检测试剂盒,检测膀胱尿路上皮癌患者染色体3、7、17号和9号染色体短臂2区1带(9p21)位点的畸变情况,探讨这4种染色体畸变的临床意义及其组合辅助诊断膀胱癌的可行性。方法:采用UroVysion试剂盒中基因识别位点探针(LSI)9p21基因探针和着丝粒3、7、17探针(CEP3、CEP7、CEP17),以荧光原位杂交(FISH)检测60例膀胱癌患者和20例非肿瘤泌尿系疾病患者的新鲜尿液标本,统计分析每条染色体在膀胱癌患者中的畸变率及其与膀胱癌病理分期、分级间的关系,计算4种探针组合检测膀胱癌的总阳性率。结果:①用FISH法检测发现,60例膀胱癌患者的尿脱落细胞核中3、7、17号染色体及9号染色体p16基因均有较高的畸变率,分别为61.7%(37/60)、56.7%(34/60)、55.0%(33/60)及66.7%(40/60)。3、7、17号染色体畸变中,除3例患者表现为17号染色体单倍体,其余均表现为多倍体,各染色体畸变率在不同病理分级患者间差异有统计学意义(P<0.05),但在不同病理分期患者间差异无统计学意义(P>0.05)。9p21位点纯合性缺失者7例(11.7%),单体者22例(36.7%),多体者11例(18.3%),9p21的畸变率在不同病理分期、分级患者间差异均无统计学意义(P>0.05)。②60例膀胱癌患者4种探针组合检测的总阳性率为56.7%。20例非肿瘤泌尿系疾病患者中有2例FISH检测结果为阳性,特异度为90%。结论:我国人群中3、7、17号染色体和9p21位点畸变率很高,而其畸变与膀胱癌的早期发生、进展过程、恶性程度等密切相关。UroVysion试剂盒可在我国人群中开展应用,但其诊断灵敏度和特异度均较国外报道低。进一步寻找适用于国内膀胱癌的最佳探针组合,制定适当的阳性判断标准是非常必需的。Objective To detect and analyze the aberrations of chromosomes 3,7,17 and 9p21 locus in urothelial carcinoma of bladder using the UroVysion chromosome and gene aberration detection FISH kit,and to investigate the clinical significance of these four chromosome aberrations and the feasibility of using these aberrations for helping the diagnosis of urothelial carcinoma of bladder.Methods The newly voided urine specimens of 60 cases of urothelial bladder carcinoma patients and 20 cases of non-cancer urinary tract disease patients were examined by FISH using the locus specific identifier（LSI） probe 9p21 and centromere enumeration probe（CEP） 3,7,17 in the UroVysion kit to analyze the correlation between aberration of chromosome and pathological stage and grade of urothelial bladder carcinoma and the overall detection rate of urothelial carcinoma by tests using these four probes.Result ① The aberration rates of chromosomes 3,7,17 and 9p21 in voided urine cells from the 60 bladder cancer patients were 61.7%（37/60）,56.7%（34/60）,55.0%（33/60） and 66.7%（40/60）,respectively.Of the chromosome 3,7,17 aberrations,all were aneuploidy except the 3 cases of chromosome 17 monoploidy.The aberrations of chromosome 3,7,17 had no correlation with pathological stage（P〈0.05）,but had significant correlation with pathological grade（P〈0.05）.Rates of homozygous deletion,monoploidy,and polyploidy in 9p21 were 11.7%（7/60）,36.7%（22/60）,18.3%（11/60）,respectively.The aberration of 9p21 had no correlation with pathological stage and grade（P〉0.05）.② The sensitivity of using 4 chromosome probes for detecting bladder cancer was 56.7%（34/60）;two cases of the 20 non-cancer urinary tract disease showed positive FISH results,therefore the specificity was 90%.Conclusions The aberration rates of chromosomes 3,7 and 17 are high in Chinese population.Chromosome aberrations are correlated with growth,development,and degree of malignancy of bladder cancer.UroVysion kit could be used as an non-invasiv

关 键 词：膀胱尿路上皮癌 荧光原位杂交 染色体畸变 诊断 

分 类 号：R737.14[医药卫生—肿瘤]