Ala Aiob, Yeo Rae Kim, Kidong Kim, Hyojin Kim, Yong Beom Kim, Duck Woo Kim, Jae Hong No, Soo Hyun Seo, Dong Hoon Suh, Kyoung Un Park
{"title":"子宫内膜癌症患者林奇综合征筛查的简化双标记免疫组织化学策略。","authors":"Ala Aiob, Yeo Rae Kim, Kidong Kim, Hyojin Kim, Yong Beom Kim, Duck Woo Kim, Jae Hong No, Soo Hyun Seo, Dong Hoon Suh, Kyoung Un Park","doi":"10.5468/ogs.23124","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To examine the efficacy of MSH6 and PMS2 immunohistochemistry (IHC) as a screening method for Lynch syndrome in endometrial cancer patients.</p><p><strong>Methods: </strong>Through multidisciplinary discussions, an institutional MSH6 and PMS2 IHC-initiated cascade test (MSH6, PMS2 IHC→microsatellite instability [MSI] assay→germline mismatch repair [MMR] gene sequencing) was developed to screen for Lynch syndrome in endometrial cancer patients. Testing was performed on a consecutive cohort of 218 newly diagnosed endometrial cancer patients who underwent surgery at a tertiary hospital in the Republic of Korea between August 2018 and December 2020. The number of MMR deficiencies (MSH6 or PMS2 loss in IHC) and.</p><p><strong>Results: </strong>of subsequent tests (MSI assay and germline MMR gene sequencing) were examined.</p><p><strong>Results: </strong>MMR deficiency was detected in 52 of the 218 patients (24.0%). Among these 52 patients, 34 (65.0%) underwent MSI testing, of which 31 (91.0%) exhibited high MSI. Of the 31 patients with MSI-high status, 15 (48.0%) underwent germline MMR gene sequencing. Subsequently, Lynch syndrome was diagnosed in five patients (33.0%).</p><p><strong>Conclusion: </strong>Lynch syndrome screening using MSH6 and PMS2 IHC-initiated cascade testing is a viable strategy in the management of endometrial cancer. A simplified strategy (MSH6 and PMS2 IHC→germline MMR gene sequencing) was proposed because most women with MMR deficiencies exhibited high MSI.</p>","PeriodicalId":37602,"journal":{"name":"Obstetrics and Gynecology Science","volume":" ","pages":"537-544"},"PeriodicalIF":2.0000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663397/pdf/","citationCount":"0","resultStr":"{\"title\":\"A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients.\",\"authors\":\"Ala Aiob, Yeo Rae Kim, Kidong Kim, Hyojin Kim, Yong Beom Kim, Duck Woo Kim, Jae Hong No, Soo Hyun Seo, Dong Hoon Suh, Kyoung Un Park\",\"doi\":\"10.5468/ogs.23124\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To examine the efficacy of MSH6 and PMS2 immunohistochemistry (IHC) as a screening method for Lynch syndrome in endometrial cancer patients.</p><p><strong>Methods: </strong>Through multidisciplinary discussions, an institutional MSH6 and PMS2 IHC-initiated cascade test (MSH6, PMS2 IHC→microsatellite instability [MSI] assay→germline mismatch repair [MMR] gene sequencing) was developed to screen for Lynch syndrome in endometrial cancer patients. Testing was performed on a consecutive cohort of 218 newly diagnosed endometrial cancer patients who underwent surgery at a tertiary hospital in the Republic of Korea between August 2018 and December 2020. The number of MMR deficiencies (MSH6 or PMS2 loss in IHC) and.</p><p><strong>Results: </strong>of subsequent tests (MSI assay and germline MMR gene sequencing) were examined.</p><p><strong>Results: </strong>MMR deficiency was detected in 52 of the 218 patients (24.0%). Among these 52 patients, 34 (65.0%) underwent MSI testing, of which 31 (91.0%) exhibited high MSI. Of the 31 patients with MSI-high status, 15 (48.0%) underwent germline MMR gene sequencing. Subsequently, Lynch syndrome was diagnosed in five patients (33.0%).</p><p><strong>Conclusion: </strong>Lynch syndrome screening using MSH6 and PMS2 IHC-initiated cascade testing is a viable strategy in the management of endometrial cancer. A simplified strategy (MSH6 and PMS2 IHC→germline MMR gene sequencing) was proposed because most women with MMR deficiencies exhibited high MSI.</p>\",\"PeriodicalId\":37602,\"journal\":{\"name\":\"Obstetrics and Gynecology Science\",\"volume\":\" \",\"pages\":\"537-544\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2023-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663397/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetrics and Gynecology Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5468/ogs.23124\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/10/13 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrics and Gynecology Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5468/ogs.23124","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/10/13 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients.
Objective: To examine the efficacy of MSH6 and PMS2 immunohistochemistry (IHC) as a screening method for Lynch syndrome in endometrial cancer patients.
Methods: Through multidisciplinary discussions, an institutional MSH6 and PMS2 IHC-initiated cascade test (MSH6, PMS2 IHC→microsatellite instability [MSI] assay→germline mismatch repair [MMR] gene sequencing) was developed to screen for Lynch syndrome in endometrial cancer patients. Testing was performed on a consecutive cohort of 218 newly diagnosed endometrial cancer patients who underwent surgery at a tertiary hospital in the Republic of Korea between August 2018 and December 2020. The number of MMR deficiencies (MSH6 or PMS2 loss in IHC) and.
Results: of subsequent tests (MSI assay and germline MMR gene sequencing) were examined.
Results: MMR deficiency was detected in 52 of the 218 patients (24.0%). Among these 52 patients, 34 (65.0%) underwent MSI testing, of which 31 (91.0%) exhibited high MSI. Of the 31 patients with MSI-high status, 15 (48.0%) underwent germline MMR gene sequencing. Subsequently, Lynch syndrome was diagnosed in five patients (33.0%).
Conclusion: Lynch syndrome screening using MSH6 and PMS2 IHC-initiated cascade testing is a viable strategy in the management of endometrial cancer. A simplified strategy (MSH6 and PMS2 IHC→germline MMR gene sequencing) was proposed because most women with MMR deficiencies exhibited high MSI.
期刊介绍：
Obstetrics & Gynecology Science (NLM title: Obstet Gynecol Sci) is an international peer-review journal that published basic, translational, clinical research, and clinical practice guideline to promote women’s health and prevent obstetric and gynecologic disorders. The journal has an international editorial board and is published in English on the 15th day of every other month. Submitted manuscripts should not contain previously published material and should not be under consideration for publication elsewhere. The journal has been publishing articles since 1958. The aim of the journal is to publish original articles, reviews, case reports, short communications, letters to the editor, and video articles that have the potential to change the practices in women''s health care. The journal’s main focus is the diagnosis, treatment, prediction, and prevention of obstetric and gynecologic disorders. Because the life expectancy of Korean and Asian women is increasing, the journal''s editors are particularly interested in the health of elderly women in these population groups. The journal also publishes articles about reproductive biology, stem cell research, and artificial intelligence research for women; additionally, it provides insights into the physiology and mechanisms of obstetric and gynecologic diseases.
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