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目的探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在诊断和监测早期上尿路上皮癌中应用的可行性。方法收取20例健康志愿者的新鲜晨尿,应用FISH检测尿液脱落细胞3、7、17号染色体着丝粒探针及9号染色体p16位点探针,建立健康人群的阈值。其后顺序留取20例初步诊断为上尿路上皮癌患者的新鲜晨尿,进行FISH检测和尿脱落细胞学检查,并进行泌尿系超声、多层螺旋CT检查(MMCT),将FISH结果和其他检查结果进行比较。留取20例术前诊断为肾癌患者的新鲜晨尿作为对照组,进行FISH检查和尿脱落细胞学检查,统计分析两者的特异性。结果 20例患者中术后病理诊断上尿路上皮癌18例,肾癌浸润肾盂1例,肾结石合并肾盂肾炎引起的肾盂上皮炎性增生1例。泌尿系超声、MMCT、尿脱落细胞学和FISH检查的敏感性分别为44.4%(8/18)、94.4%(17/18)、38.9%(7/18)、83.3%(15/18)。FISH诊断上尿路上皮癌的敏感性和MMCT相似(P>0.05),高于泌尿系超声和尿脱落细胞学检查(P<0.05)。20例对照组术后病理诊断均为肾透明细胞癌,FISH和尿脱落细胞学检查的特异性分别为95.0%和90.0%。结论 FISH诊断上尿路上皮癌具有较高的敏感性和特异性,且可以发现早期的上尿路上皮癌,可用于上尿路上皮癌的诊断和早期监测。
Objective To investigate the feasibility of fluorescence in situ hybridization (FISH) in the diagnosis and early stage of upper urothelial carcinoma. Methods The fresh morning urine was collected from 20 healthy volunteers. FISH was used to detect the centromeric probes of chromosome 3, 7 and 17 and the probe of chromosome 9 p16 in urine exfoliated cells to establish the threshold of healthy people. Subsequently, 20 fresh morning urine collected from the patients diagnosed as upper urinary tract epithelial cancer were collected sequentially for FISH and urinary cytology, and urinary ultrasound and multi-slice spiral CT (MMCT) Other test results are compared. Twenty fresh morning urine collected from patients with preoperative renal cell carcinoma were collected as control group, FISH and urinary cytology were performed to investigate the specificity of the two methods. Results Twenty cases were diagnosed as upper urinary tract epithelial cancer, one case of renal cell carcinoma and one case of pyelonephritis caused by renal calculi accompanied with pyelonephritis. The sensitivity of urinary ultrasound, MMCT, exfoliative cytology and FISH were 44.4% (8/18), 94.4% (17/18), 38.9% (7/18) and 83.3% (15/18), respectively. The sensitivity of FISH for the diagnosis of upper urothelial carcinoma was similar to that of MMCT (P> 0.05), but higher than that of urinary ultrasound and urinary exfoliative cytology (P <0.05). The pathological diagnosis of 20 cases of control group were clear cell renal cell carcinoma. The specificity of FISH and urinary exfoliative cytology were 95.0% and 90.0% respectively. Conclusion The FISH diagnosis of upper urothelial carcinoma has high sensitivity and specificity, and can be found in early stage of upper urothelial carcinoma, which can be used for the diagnosis and early monitoring of upper urothelial carcinoma.