2024 Volume 24 Issue 1 Pages 53-60
No algorithm has been established for the diagnosis of Lynch syndrome (LS) in patients with endometrial cancer (EC). We retrospectively examined the diagnostic process and clinical characteristics of 12 patients with LS diagnosed with EC at our hospital. Three patients were diagnosed with LS based on a retrospective study for lower uterine segment cancer, four were diagnosed with LS based on clinical suspicion, four were diagnosed with LS in a prospective universal screening study for all EC, and one was diagnosed with LS after microsatellite instability testing as a companion diagnosis. The family history and medical history were unclear in some of the patients diagnosed by universal screening, and these patients might not have been successfully diagnosed without universal screening. Our study findings suggest that LS can be diagnosed with fewer failures by universal screening for all patients with EC. Our goal is to establish highly accurate primary screening criteria by accumulating cases of LS that were difficult to diagnose without universal screening.
