国际妇产科学杂志 ›› 2024, Vol. 51 ›› Issue (4): 366-369.doi: 10.12280/gjfckx.20240167

• 妇科肿瘤研究: 综述 • 上一篇    下一篇

甲基化检测用于卵巢癌筛查和诊断的研究进展

苏海绮, 李雷()   

  1. 100730 中国医学科学院北京协和医院妇产科,国家妇产疾病临床医学研究中心,中国医学科学院北京协和医院疑难重症及罕见病全国重点实验室
  • 收稿日期:2024-02-20 出版日期:2024-08-15 发布日期:2024-07-25
  • 通讯作者: 李雷,E-mail:lileigh@163.com
  • 基金资助:
    中国医学科学院临床与转化医学研究专项项目(2022-I2M-C&T-B-033)

Advances in Methylation Detection for Ovarian Cancer Screening and Diagnosis

SU Hai-qi, LI Lei()   

  1. Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, National Clinical Research Center for Obstetric & Gynecologic Diseases, State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Beijing 100730, China
  • Received:2024-02-20 Published:2024-08-15 Online:2024-07-25
  • Contact: LI Lei, E-mail: lileigh@163.com

摘要:

卵巢癌是妇科恶性肿瘤中死亡率最高、预后最差的癌症,目前缺少有效的早诊早筛工具。甲基化在卵巢癌发生发展中有关键作用,目前已经开展了多项研究,分析基于液体活检方案的细胞游离DNA甲基化检测诊断卵巢癌的效能,总体准确度达到85%的中位水平,优于糖类抗原125(CA125)等传统蛋白分子标志物。卵巢癌组织甲基化检测结果与患者生存结局及药物敏感性也密切相关。卵巢癌甲基化检测方式方法的改进发展有望为卵巢癌诊疗分子方案研究提供新的路径和机遇。

关键词: 卵巢肿瘤, 甲基化, 表观基因组学, 早期诊断, 生物标记, 肿瘤

Abstract:

Ovarian cancer has the highest mortality rate and poorest prognosis in gynecologic cancers. Presently, there is a lack of effective tools for early diagnosis and early screening for ovarian cancer. Methylation plays a key role in the origin and progression of ovarian cancer. Based on liquid biopsy technique, several studies had been conducted to analyze the efficacy of cell-free DNA methylation detection in diagnosing ovarian cancer. The overall median accuracy of cell-free DNA methylation reached 85%, which is superior to traditional protein molecular markers such as CA125. The findings from methylation detection in ovarian cancer tissue were also closely related to patients' survival outcomes and drug sensitivity. The advances and improvement of methylation assays for ovarian cancer hold promise for providing novel direction and opportunities in exploring molecular strategies for diagnosing and treating.

Key words: Ovarian neoplasms, Methylation, Epigenomics, Early diagnosis, Biomarkers, tumor