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目的:探讨通过多色荧光原位杂交(multicolor fluorescence in situ hybridization,M-FISH)技术检测3、7、9、17号染色体数目畸变诊断膀胱移行细胞癌(bladder transition cell carcinoma,BTCC)的可行性和有效性。方法:采用3、7、17号染色体着丝粒探针和9p21区带探针对46例BTCC患者、15例非肿瘤患者和5例正常人尿液脱落细胞核行M-FISH检测,并同时行尿脱落细胞学(urinary cytological examination,UCE)检查,比较其敏感性和特异性,并分析各条染色体畸变与肿瘤恶性程度的相关性。结果:①M-FISH和UCE的灵敏度分别为73.9%(34/46)、47.8%(22/46),两者比较P<0.05;特异度分别为95.0%、100%,两者比较P>0.05。②MFISH在肿瘤临床分期T_a-T_1、T_2～T_(?)的阳性率分别为50.0%、84.4%;病理分级G_1、G_2、G_3的阳性率分别为42.9%、80.0%、100%,其阳性率与BTCC分级分期呈正相关(P<0.05)。③3、7、17号染色体在BTCC的畸变率分别为71.7%、73.9%、73.9%,其畸变率与肿瘤分期分级呈正相关(P<0.05)。9号染色体畸变率为56.5%,与分级分期无明显相关性(P≥0.05)。结论:使用M-FISH技术检测尿脱落细胞3、7、9、17号染色体数目畸变具有敏感度高、特异性强的优点,并具无创性,对BTCC的诊断具有重要的临床应用价值。
Objective: To investigate the feasibility of detecting bladder transitional cell carcinoma (BTCC) by detecting the number of chromosomes 3, 7, 9 and 17 with M-FISH in multicolor fluorescence in situ hybridization And effectiveness. Methods: M-FISH was used to detect exfoliated cells in urine of 46 BTCC patients, 15 non-tumor patients and 5 normal controls by using chromosome 3,7,17 centromere probes and 9p21 zone probes. Urinary cytological examination (UCE) was performed to compare the sensitivity and specificity. The correlation between each chromosomal aberration and the degree of malignancy was analyzed. Results: (1) The sensitivity of M-FISH and UCE were 73.9% (34/46) and 47.8% (22/46), respectively, with a P <0.05 and a specificity of 95.0% and 100%, respectively . (2) The positive rates of MFISH in clinical staging T_a-T_1 and T_2 ~ T_ (?) Were 50.0% and 84.4% respectively; the positive rates of GISH, G_2 and G_3 were 42.9%, 80.0% and 100% And BTCC staging was positively correlated (P <0.05). The aberration rates of chromosomes 3, 7 and 17 in BTCC were 71.7%, 73.9% and 73.9%, respectively. The aberration rate was positively correlated with tumor stage (P <0.05). The chromosome aberration rate on chromosome 9 was 56.5%, with no significant correlation with grading (P> 0.05). Conclusion: M-FISH is a sensitive and specific method for the detection of chromosome aberration in exfoliated cells 3, 7, 9 and 17. It is noninvasive and has important clinical value in the diagnosis of BTCC.