BHLHE22和CDO1基因甲基化检测在子宫内膜癌筛查中的应用价值  

Application value of BHLHE22 and CDO1 gene methylation detection in endometrial cancer screening

作　　者：刘明敏[1] 郑亚如 李桂林[1] 黄如亮 LIU Mingmin;ZHENG Yaru;LI Guilin;HUANG Ruliang(Department of Obstetrics and Gynecology,Xuzhou Maternal and Child Health Care Hospital,Xuzhou,Jiangsu 221000,China)

机构地区：[1]徐州市妇幼保健院妇产科,江苏徐州221000

出　　处：《徐州医科大学学报》2025年第2期123-127,共5页Journal of Xuzhou Medical University

基　　金：徐州市卫生健康委科技项目(XWKYHT 20220099)。

摘　　要：目的探讨宫颈脱落细胞中BHLHE22和CDO1基因甲基化检测技术在子宫内膜癌临床诊断中的应用价值。方法招募2023年5月—2024年5月于徐州市妇幼保健院就诊,疑似子宫内膜病变的患者及确诊为子宫内膜癌拟行全子宫切除的患者。宫颈刷采样后通过定量甲基化特异性PCR(qMSPCR)进行DNA甲基化检测。结果共纳入172例患者,经病理确诊,其中子宫内膜癌17例,子宫内膜良性病变44例,正常子宫内膜106例,妇科其他癌症5例。BHLHE22和CDO1基因甲基化检测评分随子宫内膜病变的进展而增加。BHLHE22和CDO1基因甲基化检测对子宫内膜癌的敏感度为94.1%,对子宫内膜良性病变和正常子宫内膜的特异度分别为90.9%和98.1%。将所有非子宫内膜癌受试者归为“全部对照”组,甲基化检测的特异度为94.2%,受试者操作特征(ROC)曲线下面积达0.946。1例活检病理确诊为子宫内膜癌的患者由于宫腔镜刮诊清除了癌灶,甲基化检测为阴性。结论宫颈脱落细胞的BHLHE22和CDO1基因甲基化检测在子宫内膜癌筛查中展现出高敏感度和特异度,有望成为一种客观可靠的非侵入性子宫内膜癌筛查手段。Objective To investigate the clinical application value of BHLHE22 and CDO1 gene methylation detection in cervical exfoliated cells for diognosis of endometrial cancer.Methods Patients who were admitted to Xuzhou Maternal and Child Health Care Hospital between May 2023 and May 2024,and who had suspected endometrial lesions or were diagnosed with endometrial cancer and scheduled for total hysterectomy were recruited.DNA methylation was detected using quantitative methylation-specific PCR(qMSPCR)after sampling with a cervical brush.Results A total of 172 patients were included,where 17 were confirmed to have endometrial cancer,44 had benign endometrial lesions,106 had normal endometrium,and 5 had other gynecological cancers.The methylation scores of BHLHE22 and CDO1 genes increased with the progression of endometrial lesions.The sensitivity of BHLHE22 and CDO1 gene methylation detection for endometrial cancer was 94.1%,while the specificity for benign endometrial lesions and normal endometrium was 90.9%and 98.1%,respectively.When all non-endometrial cancer participants were grouped as the"total control"group,the specificity of methylation detection was 94.2%,and the area under the receiver operating characteristic(ROC)curve reached 0.946.One patient whose biopsy pathology indicated endometrial cancer tested negative for methylation due to the removal of the cancerous lesion during hysteroscopic curettage.Conclusions Methylation detection of BHLHE22 and CDO1 genes in cervical exfoliated cells demonstrates excellent sensitivity and specificity in the screening of endometrial cancer.It has the potential to become an objective,reliable,and non-invasive method for endometrial cancer screening.

关 键 词：BHLHE22 CDO1 甲基化 子宫内膜癌 筛查 无创 

分 类 号：R711.7[医药卫生—妇产科学]