Frequency of Endometrial Cancer Precursors Associated with Lynch Syndrome

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Lynch Syndrome Colonic Diseases Colorectal Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Digestive System Diseases Digestive System Neoplasms Endometrial Cancer Endometrial Hyperplasia Endometrial Neoplasms Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Gastrointestinal Diseases Gastrointestinal Neoplasms Genetic Diseases, Inborn Genital Diseases Genital Diseases, Female Genital Neoplasms, Female Genomic Instability Intestinal Diseases Intestinal Neoplasms Metabolic Diseases Microsatellite Instability Mismatch Repair Deficiency Neoplasms Neoplasms by Site Neoplastic Syndromes, Hereditary Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Turcot syndrome Urogenital Diseases Urogenital Neoplasms Uterine Diseases Uterine Neoplasms

Age range

18 year–99 year

Sex eligibility

Female

Study type

Observational

Primary location

WellSpan

York, Pennsylvania, 17403, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

immunohistochemical staining

Diagnostic Test

Immunohistochemistry will be performed on the endometrial tissue specimens

Primary outcomes

Lynch Syndrome Screen Positive Rate

Time frame: 2014-2022

This is the rate of subjects who screen positive for Lynch Syndrome based on immunohistochemical staining

Sponsors and collaborators

Lead sponsor

WellSpan Health

Other

Registry information

Important dates

Study start: 2019
Primary completion: 2023
Study completion: 2023
First posted: Feb 25, 2022
Registry last updated: Mar 28, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting