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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
Source :
Obstetrics & Gynecology Science, Vol 66, Iss 6, Pp 537-544 (2023)
Publication Year :
2023
Publisher :
Korean Society of Obstetrics and Gynecology, 2023.

Abstract

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.

Details

Language :
English, Korean
ISSN :
22878572 and 22878580
Volume :
66
Issue :
6
Database :
Directory of Open Access Journals
Journal :
Obstetrics & Gynecology Science
Publication Type :
Academic Journal
Accession number :
edsdoj.2d889263fbeb4107939ab2f9aad6621d
Document Type :
article
Full Text :
https://doi.org/10.5468/ogs.23124