子宫内膜癌患者中Lynch综合征不同筛查方法的比较

A prospective cohort study about the screening tests of mismatch repair protein and clinical criteria for Lynch syndrome associated endometrial carcinoma

目的比较临床诊断标准和免疫组化检测两种方法筛查子宫内膜癌(EC)患者中Lynch综合征(LS)的准确性。方法对北京协和医院2015年12月至2018年6月期间新确诊的EC患者病理组织行IHC错配修复(MMR)蛋白检测,对MMR蛋白表达缺失的患者进行Lynch综合征相关突变基因的检测,同时以临床诊断标准(阿姆斯特丹Ⅱ型标准和修订的Bethesda标准)对患者进行评估。结果总计121例EC患者纳入研究,41例(33.9%)存在MMR蛋白表达缺失并接受基因检测,最终7例(5.8%)诊断为LS。临床诊断标准仅发现6例LS,造成1例误诊、2例漏诊。结论EC患者中Lynch综合征的发生率为5.8%。以临床诊断标准在EC患者中筛查LS将造成漏诊和误诊。

Objectives Currently, the commonly used screening methods for Lynch syndrome in patients with endometrial cancer (EC) are clinical diagnostic criteria and immunohistochemical testing. Our study compared the accuracy of the two methods in this prospective cohort study. Methods Mismatch repair (MMR) protein was detected by immunohistochemical in the pathological tissues of newly diagnosed EC patients in Peking Union Medical College Hospital, during December 2015 and June 2018. Lynch syndrome related mutation gene was detected in patients with MMR protein deficiency. At the same time, all the patients were evaluated by the clinical diagnostic criteria (Amsterdam Criteria Ⅱ and the revised Bethesda criteria). Results A total of 121 newly diagnosed EC patients were enrolled in this study, and 41 cases (33.9%) were MMR protein deficient. All of them received Lynch syndrome related mutation gene detection, and 7 cases were finally diagnosed with Lynch syndrome. Only 6 cases of Lynch syndrome, however, were diagnosed by the clinical diagnostic criteria, with 1 case misdiagnosed and 2 cases missed diagnosed. Conclusion The incidence of Lynch syndrome in endometrial cancer patients is 5.8%. And the clinical diagnostic criteria for Lynch syndrome in patients with EC will result in miss diagnosis and misdiagnosis.