Utility of endometrial sampling prior to risk-reducing hysterectomy in a patient with Lynch syndrome

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 Introduction

Women with Lynch syndrome have an autosomal dominant mutation in one of the DNA mismatch repair genes resulting in an increased lifetime risk for colorectal and endometrial cancer in addition to cancers of the ovary, stomach, hepatobiliary tract, pancreas, small bowel, urinary tract, and central nervous system. The current National Comprehensive Cancer Network (NCCN) guidelines recommend that individuals with Lynch syndrome undergo colorectal cancer screening with colonoscopy [1]. There is less data to support gynaecologic screening. However, because of high lifetime risk of endometrial cancer in women with Lynch syndrome the NCCN and other consensus guidelines recommend annual or biennial endometrial sampling beginning at age 30–35 years and risk-reducing hysterectomy and bilateral salpingo-oophorectomy in women who have completed childbearing [1, 2].....

Case presentation

A 50-year-old, gravida zero, Ashkenazi Jewish woman underwent screening for Lynch syndrome. Her paternal grandfather was diagnosed with colon cancer at age 80, paternal uncle diagnosed with colon cancer at age 50, and two paternal second cousins diagnosed with premenopausal endometrial cancer. Both the patient and her father were found to have the Lynch syndrome mutation MSH6 3959del4, which results in premature truncation of the MSH6 protein at amino acid position 1325 [3]. Following this screening result, the patient was immediately referred for risk-reducing gynaecologic surgery.

The patient had no personal history of cancer or gynaecologic pathology....
 

Discussion

Women with Lynch syndrome undergoing risk-reducing hysterectomy are at risk for having an occult endometrial cancer, however the magnitude of risk remains unknown. The estimated cumulative lifetime risk for endometrial cancer in Lynch syndrome varies by report and mutation, ranging from 21–71%. The MSH6 3959del4 mutation (as in the current case) is associated with the greatest risk of endometrial cancer, affecting 71% of women by age 70 [3]. Prior case reports have described occult endometrial cancer discovered in patients with Lynch syndrome undergoing risk-reducing surgery [4, 5]. Lachiewicz et al [6] recently published the first study to explore the prevalence of occult gynaecologic malignancy at the time of risk-reducing surgery in patients with Lynch syndrome......