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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 the aberrations of chromosome 2 (1) and 2 (1) (9p21) sites on chromosome 3,7,17 and 9 on chromosome 9 in bladder urothelial carcinoma patients with UroVysion chromosomal and genetic abnormality detection kit, The Clinical Significance of Distortion and Its Combinations to Assist the Diagnosis of Bladder Cancer. Methods: UroVysion kit was used to detect 9p21 gene of centromere locus probe (LSI) and centromere 3,7,17 probe (CEP3, CEP7, CEP17), and 60 samples were detected by fluorescence in situ hybridization (FISH) Bladder cancer patients and 20 patients with non-tumor urological diseases fresh urine samples, statistical analysis of each chromosome aberration in bladder cancer patients and its relationship with the pathological staging of bladder cancer, grade, calculate the four probe combinations The total positive rate of bladder cancer detection. Results: ①The FISH assay showed that the aberration rates of chromosome 3,7,17 and chromosome 9 p16 in exfoliated nucleus of 60 bladder cancer patients were higher than those in control group (61.7%, 37/60, respectively) 56.7% (34/60), 55.0% (33/60) and 66.7% (40/60). In chromosome 3, 7 and 17, the chromosome aberration in all three cases showed chromosome 17 haplotype, while the others showed polyploidy. The chromosomal aberration rates in different pathological grade had significant difference (P <0.05 ), But there was no significant difference in patients with different pathological stages (P> 0.05). There were 7 cases (11.7%) with homozygous deletion in 9p21 locus, 22 cases (36.7%) with haplotype and 11 cases (11.3%) with multibody, the aberration rate of 9p21 was different in different pathological stages and grading patients Statistical significance (P> 0.05). ② 60 cases of bladder cancer patients with four probes combined detection of the total positive rate was 56.7%. Two of the 20 patients with non-tumor urologic disease had a positive FISH test with a specificity of 90%. CONCLUSION: The aberration rates of chromosome 3,7,17 and 9p21 in Chinese population are very high. The aberration is closely related to the early stage of bladder cancer, the process of progression and the degree of malignancy. UroVysion kit can be applied in our population, but its diagnostic sensitivity and specificity are lower than foreign reports. Further search for the best combination of probes for bladder cancer in the country, the development of appropriate positive criteria is very necessary.