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[A prospective cohort study about the screening tests of mismatch repair protein and clinical criteria for Lynch syndrome associated endometrial carcinoma].
Zhonghua Yi Xue Za Zhi. 2019 Apr 16;99(15):1178-1183
Authors: Chao XP, Li L, Wu M, Ma SQ, Tan XJ, Zhong S, Lang JH
Abstract
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.
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.
PMID: 31006223 [PubMed - in process]
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