首页|血清中CDO1基因与HOXA9基因启动子甲基化高表达在卵巢癌诊断中的意义

血清中CDO1基因与HOXA9基因启动子甲基化高表达在卵巢癌诊断中的意义

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目的 探讨应用血液游离DNA(cfDNA)甲基化[半胱氨酸双加氧酶1型(CDO 1)基因和同源盒蛋白A9(HOXA9)基因]检测卵巢癌的临床应用及分层管理价值.方法 收集2022年1月至2023年10月就诊于成都市妇女儿童中心医院妇科有卵巢肿块手术指征患者作为研究对象进行病例对照研究.术前采集血液进行血癌抗原125(CA125)、人附睾蛋白4(HE4)、卵巢恶性肿瘤风险算法(ROMA)指数评估及DNA甲基化检测.同时收集患者基本临床信息、生物标记物与经阴道超声(TVS)等信息.共收集151例研究对象,其中病理检查良性122例,卵巢癌29例.以腹腔镜下卵巢组织病理学诊断为金标准,采用多因素Logistic回归分析卵巢癌的高危因素,利用受试者工作特征曲线下面积(AUC)分析DNA甲基化检测对卵巢癌的临床检测效能.结果 卵巢癌患者组的年龄、绝经状态、CA125与HE4检测、ROMA指数、CDO1基因与HOXA9基因单独或联合检测的阳性率均高于良性组(P<0.05).CDO 1与HOXA9双基因甲基化联合诊断卵巢癌的AUC最高为0.936(95%CI0.878~0.994),其敏感度、特异度分别为 89.7%(95%CI 73.6%~96.4%)和 97.5%(95%CI 93.0%~99.2%).早期卵巢癌国际妇产科联盟分期Ⅰ、Ⅱ中CDO1与HOXA9双基因甲基化阳性检出率为12/14.结论 在卵巢癌的风险评估和早期检测中,cfDNA的甲基化分析显示出了较高的准确性和检测效能.
The significance of hypermethylation level of CDO1 gene and HOXA9 gene in serum in the diagnosis of ovarian cancer
Objective To explore the clinical application and triage management value of using blood circulating cell-free DNA(cfDNA)(cysteine dioxygenase type 1 gene,CDO1,and Homeobox protein A9 gene,HOXA9)hypermethylation level to detect and diagnose ovarian cancer.Methods A case-control study was conducted on patients who went for surgery at Chengdu Womens and Childrens Central Hospital from November 2022 to October 2023.Blood samples were collected before surgery for evaluation of cancer antigen 125(CA125),human epididymis protein 4(HE4),risk of ovarian malignancy algorithm(ROMA)score,and DNA methylation testing.The basic clinical information,biomarkers,and transvaginal ultrasound(TVS)information were collected simultaneously.Information from a total of 151 patients was collected,including 122 cases with benign pathology and 29 ovarian cancer cases.The pathologic diagnosis of ovarian tissue was defined as the gold standard.The multivariate logistic regression analysis was used to identify high-risk factors for ovarian cancer.The clinical efficacy of DNA methylation detection for ovarian cancer was analyzed using the area under curve(AUC).Results The results showed that the age,menopausal status,CA125 and HE4 detection,ROMA score,positivity rate of CDO1 gene and HOXA9 gene single or combined testing in ovarian cancer patients were higher than those in the benign group and showed significant differences(P<0.05).Among these detection protocols,the AUC of CDO1 and HOXA9 dual gene methylation testing for ovarian cancer was the highest at 0.936(95%CI,0.878-0.994),with 89.7%(95%CI 73.6%-96.4%)sensitivity and 97.5%(95%CI 93.0%-99.2%)specificity,respectively.The positive detection rate of CDO1 and HOXA9 dual gene methylation in early ovarian cancer FOGO Ⅰ-Ⅱ stage is 12/14 higher than other tests.Conclusion Blood cfDNA methylation detection,a simple,non-invasive,and highly sensitive detection method,is superior to the current ovarian cancer testing in the risk assessment and early detection.

Ovarian neoplasmsDNA methylationScreening

侯倩男、袁宇、李燕、龚照林、张强、冯丹、宫远福、王林海、刘沛、谢小兵、何丽

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成都市妇女儿童中心医院妇科,成都 610073

北京起源聚禾生物科技有限公司检测中心,北京 102600

湖南中医药大学第一附属医院医学检验与病理中心,长沙 410007

卵巢癌 DNA甲基化 筛查

2024

中华检验医学杂志
中华医学会

中华检验医学杂志

CSTPCD北大核心
影响因子:1.402
ISSN:1009-9158
年,卷(期):2024.47(4)
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