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目的探讨甲状腺癌患者血浆p16基因启动子区域异常甲基化及其在甲状腺癌筛查及早期诊断中的价值,为甲状腺癌的早期诊断提供依据。方法利用巢式甲基化特异性聚合酶链反应(nested methylation specific PCR,nMSP)法检测50例甲状腺癌患者和32例结节性甲状腺肿患者组织和血浆中p16基因启动子区域的异常甲基化情况;分析p16基因异常甲基化与甲状腺癌临床特征的相关性及血浆p16基因异常甲基化与肿瘤组织检测结果之间的一致性。结果甲状腺癌患者组织中p16基因启动子区甲基化率为54%(27/50),血浆标本中p16基因启动子区甲基化率为52%(26/50),两者有很好的一致性(P>0.05);结节性甲状腺肿患者组织标本和血浆标本中均未见p16基因启动子区甲基化,与甲状腺癌患者相比,差异均有统计学意义(P<0.01);血浆标本p16基因甲基化检测敏感度为52%,特异度为100%。结论血浆中p16基因启动子区域异常甲基化的检测有望成为甲状腺癌筛查和早期诊断的有效指标。
Objective To investigate the abnormal methylation of p16 gene in thyroid cancer and its value in screening and early diagnosis of thyroid cancer, and to provide evidence for the early diagnosis of thyroid cancer. Methods The methylation-specific polymerase chain reaction (nMSP) was used to detect the abnormal methylation of p16 gene promoter in 50 cases of thyroid cancer and 32 cases of nodular goiter. Analysis of the relationship between the abnormal methylation of p16 gene and the clinical features of thyroid cancer and the consistency between the abnormal methylation of plasma p16 gene and the detection results of tumor tissue. Results The methylation rate of promoter region of p16 gene was 54% (27/50) in thyroid cancer tissues and 52% (26/50) in promoter region of plasma p16 gene, both of which were very good (P> 0.05). No methylation of the promoter region of p16 gene was found in the tissue samples and plasma samples of patients with nodular goiter, which were significantly different from those of patients with thyroid cancer (P <0.01) ). The sensitivity and specificity of p16 gene methylation in plasma were 52% and 100% respectively. Conclusion The detection of abnormal methylation of p16 gene promoter region in plasma is expected to be an effective marker for thyroid cancer screening and early diagnosis.