GALR1 Methylation in Vaginal Swabs Is Highly Accurate in Identifying Women With Endometrial Cancer
GALR1 Methylation in Vaginal Swabs Is Highly Accurate in Identifying Women With Endometrial Cancer
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DOI：
10.1097/igc.0b013e3182959103
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发表时间：
2013-07-01
影响因子：
4.8
通讯作者：
Widschwendter, Martin
中科院分区：
文献类型：
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作者：
Doufekas, Konstantinos;Hadwin, Richard;Widschwendter, Martin
子宫内膜癌已成为发达国家最常见的妇科肿瘤。绝经后出血是疾病的指示，只有1/10的妇女有这种症状。一种非侵入性的工具来识别患有癌症的妇女将是非常可取的。我们分析了正常子宫内膜组织（n = 23）和子宫内膜癌（n = 64）中超过27，000个CpG，发现GALR 1的DNA甲基化是这种癌症中最常见的表观遗传学改变之一。然后，我们开发了一种基于实时聚合酶链反应的GALR 1甲基化测试，并将该测试应用于79名绝经后出血妇女的阴道拭子。受试者工作特征曲线下面积，描述了正确识别41例子宫内膜癌前病变和恶性病变的敏感性和特异性，为0.93（95%可信区间，0.87-0.97; GALR 1 DNA甲基化是子宫内膜癌中最常见的分子改变之一，绝经后出血妇女阴道拭子中GALR 1甲基化的存在表明子宫内膜恶性肿瘤的存在，敏感性为92.7%，特异性为78.9%。
Endometrial cancer has become the most common gynecological cancer in developed countries. Postmenopausal bleeding is indicative of the disease in only 1 of 10 women with this symptom. A noninvasive tool to identify women with cancer would be highly desirable. We analyzed more than 27,000 CpGs in normal endometrial tissue (n = 23) and endometrial cancers (n = 64) and found that DNA methylation of GALR1 is among the most frequent epigenetic alterations in this cancer. We then developed a real-time polymerase chain reaction-based GALR1 methylation test and applied this test to vaginal swabs from 79 women who presented with postmenopausal bleeding. The receiver operating characteristics area under the curve, describing sensitivity and specificity to correctly identify the 41 women with both premalignant and malignant endometrial changes, was 0.93 (95% confidence interval, 0.87-0.97; P < 0.0001).GALR1 DNA methylation is one of the most common molecular alterations in endometrial cancer, and the presence of GALR1 methylation in vaginal swabs from women with postmenopausal bleeding indicates the presence of endometrial malignancy with a sensitivity of 92.7% and a specificity of 78.9%.