Clinical utility of fluorescence in situ hybridization in bladder urothelial carcinoma
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摘要: 目的:本研究旨在利用荧光原位杂交技术(FISH)辅助诊断膀胱尿路上皮癌,以探讨其作为一种替代尿脱落细胞学的无创性检查在膀胱尿路上皮癌诊断中的应用价值。方法:收集30例健康志愿者的新鲜尿液,应用3、7、17号染色体及9号染色体p16位点探针标记,进行FISH检测,建立正常人群阈值;再收集95例因血尿或影像学检查拟诊为膀胱肿瘤的患者晨尿标本,分别作常规尿脱落细胞学检查和FISH检测,其中79例膀胱镜下活检或术后标本病理确诊为膀胱尿路上皮癌。FISH检测统计目标染色体畸变情况,并进一步分析与病理分级的关系。结果:FISH检测设定的正常阈值为3号染色体:3%;7号染色体:4%;17号染色体:3%;9号染色体p16位点:10%。FISH检测技术的敏感性为74.68%(59/79),高于尿脱落细胞学检查的35.44%(28/79),差异具有统计学意义(P>0.001),而FISH检测的特异性为93.75%(15/16),尿脱落细胞学检查特异性为87.50%(14/16),两者差异无统计学意义(P>0.05)。不同病理分级下FISH检测的敏感性呈现为高级别高阳性率:低度恶性倾向的尿路上皮肿瘤为58.33%(7/12),尿路上皮癌Ⅰ级为54.17%(13/24),尿路上皮癌Ⅰ~Ⅱ级为86.36%(19/22),尿路上皮癌Ⅱ级和Ⅱ~Ⅲ级为94.44%(17/18),尿路上皮癌Ⅲ级为100%(3/3),敏感性随着病理分级的提高而呈现增高趋势。结论:FISH检测技术具备无创、高敏感性的特点,优于传统的尿脱落细胞学检查。不同分级的膀胱尿路上皮肿瘤其FISH检测的敏感性不同,表现为高级别高敏感性。FISH检测上述位点在低级别膀胱尿路上皮肿瘤中敏感性较高,大大提高了低级别尿路上皮肿瘤的检出率,有望成为一种常规的膀胱肿瘤复查指标。Abstract: Objective: Our study aims to use fluorescence in situ hybridization(FISH)for predicting the bladder urothelial carcinoma,in order to discuss its clinical utility in bladder urothelial carcinoma as a noninvasive test and a substitute for urine cytology.Method: Fresh urine samples were collected from 30 healthy volunteers,for FISH analysis,labeled probes specific for chromosomes 3,7 and 17 and for the pl6(9p21)gene were used to assess chromosomal abnormalities indicative of malignancy.Another 95 cases(including 79 bladder urothelial carcinoma cases diagnosed by pathological examination)suspected of having urothelial carcinoma because of hematuria or auxiliary examination were analyzed by means of cytology and FISH,statistical analysis of the experimental results were used for further analysis with pathologic stage.Result: The normal threshold of FISH was:chromosome 3:3%,chromosome 7:4%,chromosome 17:3% and the pl6(9p21)gene:10%.The sensitivity of FISH examination of urothelial carcinoma was 74.68%(59/79),which was much higher than that of cytology 35.44%(28/79),P>0.001.The specificity appeared no difference between FISH and cytology of urothelial carcinoma:93.75%(15/16)and 87.50%(14/16),respectively,P>0.05.The sensitivity of FISH examination was higher in high grade urothelial carcinoma than in low grade:58.33%(7/12)for potential malignancy,54.17%(13/24)for grade Ⅰ,86.36%(19/22) for grade Ⅰ-Ⅱ,94.44%(17/18)for grade Ⅱ and Ⅱ-Ⅲ,100% for grade Ⅲ.Conclusion: FISH is a non invasive detecting method with high sensitivity which is better than traditional urine cytology.FISH not only showed higher sensitivity in higher grade urothelial carcinoma,but also could help us easy to detect low grade urothelial carcinoma,which was expected to be a regular test for urothelial carcinoma.
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Key words:
- FISH /
- urine cytology /
- urothelial carcinoma /
- grade
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