荧光原位杂交技术检测肺癌患者痰液中部分染色体数量的改变

Detection of chromosome number abnormalities by fluorescence in situ hybridization in sputum samples from patients with lung cancer

目的应用染色体特异性探针对痰液脱落细胞进行荧光原位杂交(fluorescence in situ hybridization,FISH)用以分析肺癌的染色体畸变,探讨FISH技术辅助诊断肺癌的可行性和有效性。方法选用3、7、17号染色体着丝粒探针,p16、p53探针对40例疑似肺癌患者痰液的脱落细胞进行FISH研究。结果肺癌患者痰液脱落细胞中3、7、17号染色体数目和p16、p53畸变阳性率分别为41.9%、45.2%、41.9%、54.9%、51.6%,其中p16、p53畸变率较高。FISH联合应用五种探针诊断肺癌的敏感性为80.6%,特异性为77.8%,诊断效率为80.0%。结论肺癌的发生、发展与染色体的畸变有关,应用FISH技术检测肺癌患者痰液细胞染色体数目畸变,可作为肺癌诊断的一项辅助方法。

Purpose To study the molecular cytogenetic alterations of the lung cancer with exfoliated cells in sputum samples by Fluo- rescence in situ Hybridization （FISH） analysis of chromosome-specific probes, and evaluate the possibility and validity of FISH in de- tecting of the lung cancer. Methods FISH was performed using 3, 7, 17 and p16, p53 of chromosome-specific probes to examine chromosome aberration of exfoliated cells in 40 sputum samples from patients suspected of having lung cancer. Results The frequency of numerical aberration of chromosomes 3,7, 17 and p16, p53 was 41.9% , 45.2% , 4l. 9%, 54. 9% and 51.6% in sputum exfolia- ted cells. Loss of chromosome p16, p53 was the most common finding. As using the 5 chromosome probes in combination for detecting lung cancer, the sensitivity was 80.6%, the specificity was 77.8%, diagnostic concordance rate was 80. 0%. Conclusions A number of chromosome aberrations are detected in the lung cancer by FISH technique which provides a basis for further understanding of its molecular pathogenesis, and can be used as an adjunctive tool for the diagnosis, prognosis of lung cancer.