目的:探讨宫颈上皮内瘤变(CIN)患者人类染色体末端酶(hTERC)基因的表达和临床意义。方法:收集2006年10月至2007年6月北京大学人民医院妇科122例宫颈脱落细胞标本,其中CIN患者66例、宫颈鳞癌(SCC)患者20例、正常细胞学妇女36例,用荧光原位杂交(FISH)方法检测脱落细胞hTERC基因。结果:在CINⅠ、CINⅡ/Ⅲ和SCC患者宫颈脱落细胞中hTERC基因的表达率分别是16.13%、48.57%和90%,CINⅠ、CINⅡ/Ⅲ、SCC组与正常组比较,hTERC基因阳性率差异有显著统计学意义(P<0.001),其中,CINⅠ与CINⅡ/Ⅲ、CINⅠ与SCC比较,CINⅡ/Ⅲ与SCC比较差异有统计学意义(P<0.05)。随着病变程度增加,hTERC基因表达率增加。hTERC基因检测CINⅡ/Ⅲ的敏感度、特异度、阳性预测值和阴性预测值分别是48.57%、92.53%、77.27%和77.5%。CIN和SCC组hTERC基因拷贝数明显增加,其中CIN患者平均拷贝数为2.8,SCC组平均拷贝数为3.2,hTERC基因的表达水平与宫颈病变的程度关系密切。结论:hTERC基因在CIN和SCC中表达异常,且随病变程度增加阳性表达率增加,可作为宫颈癌前病变进展的生物遗传学监测指标。 Objective: To investigate the expression and clinical significance of human telomerase (hTERC) gene in cervical intraepithelial neoplasia (CIN). Methods: From October 2006 to June 2007, Peking University People’s Hospital 122 cases of cervical exfoliative cells specimens, including 66 cases of CIN, 20 cases of cervical squamous cell carcinoma (SCC), 36 cases of normal cytology, with fluorescent Detection of hTERC gene in exfoliated cells by FISH. Results: The expression rates of hTERC gene in cervical exfoliated cells of CINⅠ, CINⅡ / Ⅲand SCC were 16.13%, 48.57% and 90%, respectively. The positive rates of hTERC in CINⅠ, CINⅡ / Ⅲ and SCC were (P <0.001). There was significant difference between CINⅠand CINⅡ / Ⅲ, CINⅠand SCC, CINⅡ / Ⅲand SCC (P <0.05). With the increased degree of disease, hTERC gene expression increased. The sensitivity, specificity, positive predictive value and negative predictive value of hTERC gene CINⅡ / Ⅲ were 48.57%, 92.53%, 77.27% and 77.5% respectively. In CIN and SCC groups, the copy number of hTERC gene was significantly increased, of which the average copy number of CIN was 2.8 and the average copy number of SCC was 3.2. The expression level of hTERC was closely related to the degree of cervical lesions. CONCLUSION: The expression of hTERC gene in CIN and SCC is abnormal, and the expression of hTERC increases with the increase of the degree of lesion. It can be used as a biogenetic monitoring indicator for the progression of cervical precancerous lesions.