Clinical phenotype of endometrial carcinoma in Lynch Syndrome: MSH2 mutation carriers

• Main Author: Nichols, Adam Harry Gerald
• Format: Thesis
• Language: English
• Published: Memorial University of Newfoundland 2020
• Subjects: Newfoundland; Lynch
• Online Access: https://research.library.mun.ca/14840/; https://research.library.mun.ca/14840/1/thesis.pdf

Objective The purpose of this study is to compare histological and clinical variables of individuals with Lynch Syndrome associated Endometrial Carcinoma with a cohort with sporadic Endometrial Carcinomas derived from the general population with sporadic Endometrial Carcinomas. The patients in the Lynch Syndrome cohort were genetically confirmed carriers of MSH2 mismatch repair gene mutations all with previously diagnosed Endometrial Carcinoma. Methods Clinical data was abstracted retrospectively from the medical charts of 46 women with endometrial caner who had a known MSH2 mismatch repair mutation confirmed through genetic sequencing. Clinical variables abstracted from the medical files of these patients included (1) Age at diagnosis (2) International Federation of Gynecology and Obstetrics (FIGO) Stage (3) International Federation of Gynecology and Obstetrics Grade and (4) Cell type of endometrial carcinoma. The characteristics of the MSH2 carriers were subsequently compared to the clinically relevant variables of sporadic endometrial cancers that were retrieved from the Newfoundland and Labrador Cancer Care Registry (NLCCR) diagnosed between 2000 and 2010. The Newfoundland and Labrador Cancer Care Registry is a provincial cancer care program and database operated by Eastern Health that combines 5 core cancer programs and registries. The NLCCR includes the provinces Colon, Breast and Cervical screening programs and the provincial tumour and systemic therapy surveillance programs. Results The mean age at diagnosis of Endometrial Cancer (EC) in the MSH2 Lynch syndrome mutation carriers was 46.3 years vs. 60.9 years in the sporadic cohort (p=<0.001). The Lynch Syndrome ECs were diagnosed more frequently prior to 55 years of age (p=<0.001). Comparing local and advanced stages of disease, the Lynch Syndrome cohort had more advanced disease at diagnosis (p=0.047). The prevalence of papillary serous cell type carcinomas in the Lynch Syndrome (23.7%) cohort was statistically more frequent than in the sporadic ...