126例子宫内膜癌中Lynch综合征的初步筛查

发布时间：2018-06-16 23:14

  本文选题：子宫内膜肿瘤 + Lynch综合征　； 参考：《临床与实验病理学杂志》2017年03期

【摘要】：目的探讨hMSH2、hMSH6、hMLH1、hPMS2蛋白缺失情况和hMLH1基因启动子甲基化状态及Lynch综合征患者的家系分析,初步进行Lynch综合征相关子宫内膜癌筛查。方法采用免疫组化SP法检测126例子宫内膜癌中hMSH2、hMSH6、hMLH1、hPMS2蛋白表达,并用甲基化特异性PCR检测hMLH1蛋白表达缺失病例的hMLH1基因启动子甲基化状态。结果免疫组化结果显示22%(28/126)的病例出现MMR蛋白缺失表达,其中12例hMLH1~-/hPMS2~-、6例hPMS2~-、4例hMSH2~-/hMSH6~-,hMSH6~-和hMLH1~-各3例,以hMLH1和hPMS2蛋白缺失表达为主。甲基化特异性PCR检测有hMLH1蛋白表达缺失的15例子宫内膜癌中hMLH1基因启动子甲基化状态,证实9例存在hMLH1基因启动子甲基化,提示其为子宫内膜癌的散发性病例。结论对子宫内膜癌患者行MMR蛋白免疫组化SP法染色,结合甲基化特异性PCR检测hMLH1基因启动子甲基化状态,是初步筛查Lynch综合征的有效策略。
[Abstract]:Objective to investigate the deletion of hMSH6 hMLH1hPMS2 protein, methylation status of hMLH1 gene promoter and family analysis of Lynch syndrome patients, and to screen for endometrial carcinoma associated with Lynch syndrome. Methods the expression of hMSH2hMSH6hMLH1hPMS2 protein was detected by immunohistochemical SP method in 126 cases of endometrial carcinoma. The methylation status of hMLH1 gene promoter was detected by methylation specific PCR. Results Immunohistochemical results showed that MMR protein deletion was found in 22 / 28 / 126) cases, of which 12 cases were hMLHH1 -r-hPMS2M2PMS2P 6 cases, and 4 cases were hMSH2 + -rhMSH6 + -hMSH6 -hMSH6-, and 3 cases were hMLH1 and hPMS2 protein deletions, mainly hMLH1 and hPMS2 protein deletions. Methylation status of hMLH1 promoter was detected by methylation specific PCR in 15 cases of endometrial carcinoma with loss of hMLH1 protein expression. Nine cases were confirmed to have methylation of hMLH1 gene promoter, indicating that hMLH1 gene promoter methylation was sporadic in endometrial carcinoma. Conclusion Immunohistochemical SP staining of MMR protein and methylation specific PCR for detecting methylation status of hMLH1 gene promoter in endometrial carcinoma are effective strategies for screening Lynch syndrome.
【作者单位】： 贵州省人民医院病理科;
【分类号】：R735.33

【相似文献】

相关会议论文 前1条

1 庞淑洁;郭东辉;;lynch综合征相关子宫内膜癌的临床病理形态研究[A];中华医学会第十次全国妇产科学术会议妇科肿瘤会场（妇科肿瘤学组、妇科病理学组）论文汇编[C];2012年

相关硕士学位论文 前1条

1 莫海英;Lynch综合征相关性子宫内膜癌中hMLH1、hMSH2、hMSH6及hPMS2的表达及意义[D];山东大学;2015年

，

本文编号：2028442