Journal of Hereditary Tumors
Online ISSN : 2435-6808
Clinical Experience
Screening for Lynch syndrome using microsatellite instability tests at a regional core hospital
Shigenori WakitaMami KanekoTakayoshi KawabataYosuke KitoKunihiro TsujiShigetsugu TsujiHiroyuki BandoHiroshi MinatoHisashi DoyamaAtsushi Nohara
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JOURNAL OPEN ACCESS

2025 Volume 24 Issue 3 Pages 201-207

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Abstract

 Objective : This report describes the aims and outcomes of Lynch syndrome (LS) screening at our hospital.

Methods : In our hospital, we are conducting two LS screening initiatives: 1) to identify cases meeting the first screening criterion, based on medical and family histories, in collaboration with the main medical department; and 2) for treatment-related purposes, to confirm all microsatellite instability (MSI) tests performed by each medical department with the genetics department. Here, a retrospective study was conducted on the outcomes of LS screening of 739 cases for which MSI tests were performed between April 2019 and December 2022.

Results : Of the 739 cases, 57 cases (7.7%) were MSI-high cases. Although no cases were diagnosed with LS before April 2019, screening resulted in the novel diagnosis of six cases with LS between April 2019 and December 2022, allowing appropriate follow-up with surveillance and genetic counseling for blood relatives.

Conclusion : As the uses for MSI tests have expanded, the number of MSI tests is increasing, leading to the diagnosis of LS. It is critical to continue to develop efforts for LS screening.

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© 2025 The Japanese Society for Hereditary Tumors
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