本文選題：子宮內(nèi)膜腫瘤 + Lynch綜合征�。� 參考：《臨床與實驗病理學(xué)雜志》2017年03期

【摘要】：目的探討hMSH2、hMSH6、hMLH1、hPMS2蛋白缺失情況和hMLH1基因啟動子甲基化狀態(tài)及Lynch綜合征患者的家系分析,初步進行Lynch綜合征相關(guān)子宮內(nèi)膜癌篩查。方法采用免疫組化SP法檢測126例子宮內(nèi)膜癌中hMSH2、hMSH6、hMLH1、hPMS2蛋白表達,并用甲基化特異性PCR檢測hMLH1蛋白表達缺失病例的hMLH1基因啟動子甲基化狀態(tài)。結(jié)果免疫組化結(jié)果顯示22%(28/126)的病例出現(xiàn)MMR蛋白缺失表達,其中12例hMLH1~-/hPMS2~-、6例hPMS2~-、4例hMSH2~-/hMSH6~-,hMSH6~-和hMLH1~-各3例,以hMLH1和hPMS2蛋白缺失表達為主。甲基化特異性PCR檢測有hMLH1蛋白表達缺失的15例子宮內(nèi)膜癌中hMLH1基因啟動子甲基化狀態(tài),證實9例存在hMLH1基因啟動子甲基化,提示其為子宮內(nèi)膜癌的散發(fā)性病例。結(jié)論對子宮內(nèi)膜癌患者行MMR蛋白免疫組化SP法染色,結(jié)合甲基化特異性PCR檢測hMLH1基因啟動子甲基化狀態(tài),是初步篩查Lynch綜合征的有效策略。
[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.
【作者單位】： 貴州省人民醫(yī)院病理科;
【分類號】：R735.33

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