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目的:观察乳腺癌、乳腺良性肿瘤患者组织及血浆中RASSF1A基因启动子区异常甲基化状态,并探讨其临床意义。方法:应用甲基化特异性PCR检测2011-06-01-2012-12-31潍坊市人民医院116例乳腺癌和85例乳腺良性肿瘤患者组织及血浆中RASSF1A基因甲基化状态,分析其与患者临床病理因素的关系。结果:116例乳腺癌组织RASSF1A基因启动子甲基化率为71.55%(83/116),血浆中RASSF1A甲基化率为53.45%(62/116)。85例良性肿瘤组织RASSF1A基因启动子甲基化率为12.94%(11/85),血浆中未检测出甲基化的RASSF1A。癌组织中RASSF1A甲基化与患者年龄(χ2=0.008,P=0.930)、病理类型(χ2=0.010,P=0.995)、临床分期(χ2=0.216,P=0.642)和淋巴结转移(χ2=0.007,P=0.933)不相关,差异无统计学意义;而血浆RASSF1A甲基化与患者临床分期(χ2=4.796,P=0.029)、淋巴结转移(χ2=5.163,P=0.023)相关,差异有统计学意义。血浆RASSF1A启动子甲基化鉴别诊断乳腺癌与乳腺良性肿瘤的灵敏度为53.45%,特异度为100.00%,准确度为73.13%。结论:乳腺癌患者RASSF1A基因甲基化水平明显升高,检测血浆中RASSF1A基因启动子区甲基化水平有助于乳腺癌与乳腺良性肿瘤的鉴别诊断。
OBJECTIVE: To observe the abnormal methylation status of RASSF1A gene promoter region in tissues and plasma of patients with breast cancer and breast benign tumor and to explore its clinical significance. Methods: Methylation-specific PCR was used to detect the methylation status of RASSF1A gene in 116 cases of breast cancer and 85 cases of benign breast neoplasms in Weifang People’s Hospital from June 2011 to January 2012. The relationship between patients’ clinical and pathological factors. Results: The promoter methylation of RASSF1A gene in 116 cases of breast cancer was 71.55% (83/116), and the methylation rate of RASSF1A in plasma was 53.45% (62/116). The methylation rate of RASSF1A promoter in 85 cases of benign tumor was 12.94% (11/85). No methylated RASSF1A was detected in plasma. The methylation status of RASSF1A in patients with cancer was significantly associated with age (χ2 = 0.008, P = 0.930), pathological type (χ2 = 0.010, P = 0.995), clinical stage (χ2 = 0.216, P = 0.642) and lymph node metastasis , P = 0.933), but the difference was not statistically significant. The methylation of plasma RASSF1A was correlated with clinical stage (χ2 = 4.796, P = 0.029) and lymph node metastasis (χ2 = 5.163, P = 0.023) Significance of learning. The sensitivity of plasma RASSF1A promoter methylation in diagnosing breast cancer and breast benign tumor was 53.45%, specificity was 100.00% and accuracy was 73.13%. Conclusion: The methylation level of RASSF1A gene is significantly increased in breast cancer patients. Detecting the methylation level of RASSF1A promoter in plasma may be helpful to the differential diagnosis of breast cancer and benign breast tumor.