Frequency of Endometrial Cancer Precursors Associated with Lynch Syndrome

Completed

• Conditions: Mismatch Repair Deficiency; Endometrial Hyperplasia; Microsatellite Instability; Lynch Syndrome; Endometrial Cancer
• Interventions: Diagnostic Test: Immunohistochemical staining

• Registration Number: NCT05257057
• Lead Sponsor: WellSpan Health

Brief Summary

Given that there is a significant prevalence of Lynch syndrome among patients with endometrial cancer (about 5% of patients with endometrial cancer), and given there is a known risk of endometrial cancer among patients with endometrial hyperplasia (40% risk of pre-existing occult cancer with endometrial intraepithelial neoplasia), it is hypothesized that a diagnosis of endometrial hyperplasia may herald on-going risk of harboring a Lynch Syndrome gene mutation.

The purpose of this study is to examine endometrial hyperplasia specimens and compare the frequency of Lynch Syndrome gene mutations between endometrial hyperplasia and endometrial cancer subjects. This will provide a rationale and opportunity for earlier screening, and reduce colon cancer morbidity and mortality secondary to the Lynch syndrome gene.

Detailed Description

This is an observational cohort study. Tissue specimens obtained that have been labeled with the diagnosis of endometrial hyperplasia will be identified and their chart reviewed for demographic date of age, race, body mass index, and co-morbidities. The specimen will then be tested via immunohistochemistry for the mismatch repair proteins MLH1, PMS2, MSH2, or MSH 6. Their absence is indicative of Lynch Syndrome. Statistical analysis will then be performed to compare the incidence of Lynch syndrome in endometrial hyperplasia with Lynch Syndrome in endometrial cancer.

Study Timeline

• Study Start: 2019-05-08
• Study First Submitted: 2022-02-16
• Study First Submitted QC: 2022-02-16
• Study First Posted: 2022-02-25
• Primary Completion: 2023-06-02
• Study Completion: 2023-06-02
• Status Verified: 2024-04
• Last Update Submitted: 2025-03-24
• Last Update Posted: 2025-03-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 91

Inclusion Criteria

• Appropriate specimen, hysterectomy or biopsy with final labeled diagnosis of endometrial hyperplasia of any grade

Exclusion Criteria

• Any specimen that is later associated with endometrial cancer in subsequent pathology exam

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Endometrial hyperplasia	Immunohistochemical staining	These are patients with a diagnosis of endometrial hyperplasia at WellSpan in the study time frame diagnosed via endometrial biopsy, dilation and curettage, or hysterectomy.

Primary Outcome Measures

Name	Time	Method
Lynch Syndrome Screen Positive Rate	2014-2022	This is the rate of subjects who screen positive for Lynch Syndrome based on immunohistochemical staining

Trial Locations

Locations (1)

WellSpan; 🇺🇸 York, Pennsylvania, United States