多重基因甲基化分析在宫颈癌诊断中的应用研究  

Application of multiple gene methylation analysis in the diagnosis of cervical cancer

作　　者：王娟娟[1] 荣婷婷[1] 郑英霞[1] 朱威南 沈立松[1] WANG Juanjuan;RONG Tingting;ZHENG Yingxia;ZHU Weinan;SHEN Lisong(Department of Clinical Laboratory,Xinhua Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院检验科,上海200092

出　　处：《国际检验医学杂志》2022年第2期221-227,共7页International Journal of Laboratory Medicine

摘　　要：目的分析宫颈脱落细胞CADM1、C13ORF18、PCDHA4和TERT 4种基因的甲基化水平在识别宫颈癌及癌前病变中的价值。方法收集2019年9月至2020年8月在上海交通大学医学院附属新华医院妇科就诊的101例女性患者及20例健康女性(对照组)的宫颈脱落细胞,提取基因组DNA进行人乳头瘤病毒(HPV)16/18检测及CADM1、C13ORF18、PCDHA4和TERT 4种基因的甲基化特异性PCR检测,分析4种基因甲基化单项或联合HPV16/18检测在宫颈癌或癌前病变中的诊断性能。结果C13ORF18和TERT基因的甲基化阳性率在对照组、低级别鳞状上皮内病变(LSIL)组、高级别鳞状上皮内病变(HSIL)组和宫颈癌组4组间比较,差异有统计学意义(P<0.01)。CADM1和PCDHA4基因的甲基化阳性率在4组间差异无统计学意义(P>0.05)。C13ORF18和TERT基因甲基化单项检测用于宫颈癌的筛查具有良好的诊断性能,C13ORF18基因甲基化单项检测诊断宫颈癌的特异度为93.94%,TERT基因甲基化单项检测诊断宫颈癌的灵敏度为86.36%,联合HPV16/18检测并没有明显提高诊断性能。结论宫颈脱落细胞CADM1、C13ORF18、PCDHA4和TERT这4种基因中,TERT和C13ORF18基因甲基化单项检测在宫颈癌及癌前病变的筛查中体现了较好的临床价值。Objective To analyze the value of methylation levels of four genes,CADM1,C13ORF18,PCDHA4 and TERT in identifying cervical cancer and precancerous lesions.Methods Cervical exfoliated cells of 101 female patients and 20 healthy females in the Xinhua Hospital,Shanghai Jiaotong University School of Medicine from September 2019 to August 2020 were collected.Genomic DNA was extracted for human papillomavirus(HPV)16/18 detection and methylation-specific PCR detection of CADM1,C13ORF18,PCDHA4 and TERT genes.Then the diagnostic performance of methylation of 4 genes alone or in combination with HPV16/18 detection in the diagnosis of cervical cancer or precancerous lesions was analyzed.Results The difference of methylation positive rates of C13ORF18 and TERT in control group,low grade squamous intraepithelial lesion(LSIL)group,high grade squamous intraepithelial lesion(HSIL)group and cervical cancer group was statistically significant(P<0.01).The methylation positive rates of CADM1 and PCDHA4 genes had no significant difference among the 4 groups(P>0.05).The methylation detection of C13ORF18 and TERT alone had good diagnostic performance for cervical cancer screening,while the specificity of the methylation detection of C13ORF18 gene for diagnosing cervical cancer was 93.94%and the sensitivity of the methylation detection of TERT gene for diagnosing cervical cancer was 86.36%.The detection combined with HPV16/18 did not significantly improve the diagnostic performance.Conclusion Among the 4 genes of CADM1,C13ORF18,PCDHA4 and TERT in cervical exfoliated cells,the methylation detection of single TERT gene and C13ORF18 gene shows good clinical value in screening cervical cancer and precancerous lesions.

关 键 词：甲基化特异性PCR HPV16/18 宫颈癌 宫颈脱落细胞 

分 类 号：R737.33[医药卫生—肿瘤]