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 [...
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| Format: | Article |
| Language: | English |
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Korean Society of Obstetrics and Gynecology
2023-11-01
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| Series: | Obstetrics & Gynecology Science |
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| Online Access: | http://www.ogscience.org/upload/pdf/ogs-23124.pdf |
| _version_ | 1797543003158478848 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Ala Aiob |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T13:38:31Z |
| format | Article |
| id | doaj.art-2d889263fbeb4107939ab2f9aad6621d |
| institution | Directory Open Access Journal |
| issn | 2287-8572 2287-8580 |
| language | English |
| last_indexed | 2024-03-10T13:38:31Z |
| publishDate | 2023-11-01 |
| publisher | Korean Society of Obstetrics and Gynecology |
| record_format | Article |
| series | Obstetrics & Gynecology Science |
| spelling | doaj.art-2d889263fbeb4107939ab2f9aad6621d2023-11-21T04:42:33ZengKorean Society of Obstetrics and GynecologyObstetrics & Gynecology Science2287-85722287-85802023-11-0166653754410.5468/ogs.231248783A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patientsAla Aiob0Yeo Rae Kim1Kidong Kim2Hyojin Kim3Yong Beom Kim4Duck Woo Kim5Jae Hong No6Soo Hyun Seo7Dong Hoon Suh8Kyoung Un Park9 Department of Obstetrics and Gynecology, Galilee Medical Center, Nahariya, Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel Department of Obstetrics and Gynecology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Obstetrics and Gynecology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Pathology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Obstetrics and Gynecology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Obstetrics and Gynecology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Obstetrics and Gynecology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, KoreaObjective 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.http://www.ogscience.org/upload/pdf/ogs-23124.pdflynch syndrome iimass screeningg-t mismatch-binding proteinimmunohistochemistry |
| spellingShingle | 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 A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients Obstetrics & Gynecology Science lynch syndrome ii mass screening g-t mismatch-binding protein immunohistochemistry |
| title | A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients |
| title_full | A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients |
| title_fullStr | A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients |
| title_full_unstemmed | A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients |
| title_short | A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients |
| title_sort | simplified two marker immunohistochemistry strategy for lynch syndrome screening in endometrial cancer patients |
| topic | lynch syndrome ii mass screening g-t mismatch-binding protein immunohistochemistry |
| url | http://www.ogscience.org/upload/pdf/ogs-23124.pdf |
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