2011 血中循环DNA启动子甲基化与妇科肿瘤的关系.pdf

2011年第38 卷第6 期 中国肿瘤临床 353 · · 综 述 血中循环DNA启动子甲基化与妇科肿瘤的关系* 班 蕊 综述 曲芃芃 审校 摘要 妇科恶性肿瘤患者外周血中存在着循环DNA ，其含量明显高于健康人水平且具有与肿瘤原发灶相一致的基因异常 改变，DNA 基因启动子甲基化是基因异常中一项重要的表观遗传学改变，是导致肿瘤抑癌基因、DNA 错配修复基因、转移抑制基 因等表达沉默的重要分子生物学基础。目前已检测到妇科恶性肿瘤患者外周血循环DNA 中有多种基因存在异常甲基化，且与肿 瘤患者的临床病理特征存在不同程度的相关性。这使得非创伤性早期诊断肿瘤、及时发现肿瘤的复发或转移、监测疗效、预测预 后成为可能。 关键词 循环DNA 甲基化 妇科肿瘤 诊断 预后 doi:10.3969/j.issn. 1000-8179.2011.06.015 The Relationship between Aberrant Promoter Methylation in Plasma/Serum Circulating DNA and Gynecological Carcinoma Rui BAN, Pengpeng QU Correspondence to: Pengpeng QU, E-mail: qu.pengpeng@ Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin 300100, China This work was supported by Natural Science Foundation of Tianjin (No.08JCYBJC08200) Abstract Circulating DNA was assessed in plasma/serum from gynecological carcinoma patients, and it was found that the con- centration of circulating DNA in these patients is higher than in healthy controls. Similar genetic abnormalities occur in the primary tu- mors of these cancer patients. Promoter methylation is an important epigenetic change. Hypermethylation of multiple genes has been detected in circulating DNA from gynecological cancer patients. Aberrant promoter methylation is a fundamental molecular abnormali- ty leading to transcriptional silencing of tumor suppressor genes, DNA repair genes and metastasis inhibitor genes. The abnormal meth- ylation of multiple genes in the peripheral blood of gynecological tumor patients has been described in recent years. To varying degrees, hypermethylation and abnormal methylation both have a relationship with the clinic