Gynaecological malignancies in Lynch syndrome: surveillance and cancer characteristics

Abstract

Lynch syndrome (LS) is an autosomal dominant genetic predisposition for cancer, which is associated with an increased risk of developing endometrial and ovarian cancer. Endometrial cancer develops at a young age in women with LS (mean age 50-55 years). Annual gynaecological surveillance consist of transvaginal ultrasound and standard endometrial sampling. The conclusion of our studies was that adding standard endometrial sampling to annual transvaginal ultrasound had no additional value in the early detection of (pre)malignant endometrial lesions in women with LS, although women reported it as a painful procedure. The feasibility of using vaginal tampons to collect endometrial cells, as an alternative for endometrial sampling was analysed. With these tampons vaginal epithelial cells of good quality were collected and this procedure was reported as no painful. No endometrial cells were found using tampons. More research has to be done to evaluate whether this female friendly method of collecting vaginal material can be developed for endometrial surveillance in women with LS. Ovarian cancer in women with LS develops at a young age with a wide age-range, is often diagnosed at an early stage, with frequently endometrioid/clearcell adenocarcinoma histology. The role of surveillance in detection of early stage ovarian cancer seems limited.