摘要目的 探讨人类染色体端粒酶RNA基因(hTERC)扩增的荧光原位杂交(FISH)检测在宫颈脱落细胞防癌筛查中的意义.方法 收集2008年2-10月上海长海医院门诊就诊146例患者宫颈液基细胞学样本,应用间期双色FISH技术检测hTERC基因的扩增情况,并与细胞学和组织学结果进行对照.结果 杂交成功120例(细胞学阴性20例、细胞学阳性100例).hTERC基因扩增的阳性率与细胞学等级成正相关(r=0.465,P＜0.01),与组织学等级成正相关(r=0.610,P＜0.01),各级的阳性率分别为:炎性病变0(0/13)、宫颈上皮内瘤样病变(CIN)Ⅰ级2 8.6%(6/21)、CINⅡ级11/18、CINⅢ级75.0%(18/24)、鳞状细胞癌91.7%(22/24);FISH方法检出高级别(CINⅡ/Ⅲ级)以上病变的敏感性为77.3%(51/66),特异性为82.4%(28/34).阳性预测值89.5%,阴性预测值65.1%,低级别(CIN Ⅰ级)以下病变的hTERC阳性率与高级别以上病变相比差异有统计学意义(x2=32.550,P＜0.01).结合hTERC高倍扩增(信号数＞4)的出现,检出高级别以上病变的敏感性提高到81.2%.结论 hTERC基因扩增的FISH检测有助于辅助细胞学诊断,提高高危病变的检出率.实验结果判断除参照阈值之外,还应结合hTERC基因的扩增类型,出现高倍扩增亦提示高级别以上病变.

abstractsObjective To investigate the value of fluorescence in situ hybridization (FISH)detection of human telomerase RNA component ( hTERC ) gene amplification in screening of cervical lesions.Methods A total of 146 post-thinPrep cytology test (TCT) samples were analyzed using FISH by two-color interphase probe targeting hTERC gene at chromosome 3q26 and the data were compared with the cytological and histological results. Results FISH analysis was successful in 120 cases (20 cases of normal and 100 abnormal cases by TCT). Gene amplification of hTERC by FISH had a positive correlation with the cytological (r = 0. 465, P ＜ 0. 01 ) and histological grade results ( r = 0. 610, P ＜ 0. 01 ). Extra copies of hTERC were seen in 28.6% (6/21) of CIN Ⅰ , 61.1% (11/18) of CIN Ⅱ , 75.0% (18/24) of CIN Ⅲ and 91.7% (22/24) of squamous cell carcinoma, respectively. None (0/13) of the inflammation cases showed hTERC amplification. The sensitivity and specificity for detecting high grade lesions by FISH were 77. 3%(51/66) and 82. 4% (28/34) ;and the positive and negative predictive values were 89. 5% and 65. 1%,respectively. The rate of hTERC gene gain in high grade lesions was significantly higher than that in the low grade lesions( x2 =32. 550,P ＜0. 01 ). Combined with the high copy numbers, the sensitivity for detecting high grade lesions was increased to 81.2%. Conclusions Detection of hTERC gene amplification by FISH improves the screening efficiency of high-risk cervical epithelial lesions. The presence of high copy numbers of hTERC correlates with the presence of high grade cervical dysplasia.