The Ten Year Experience of A Regional Specialist Gynaecology Cancer Genetics Clinic with Lynch Syndrome

Abstract

Aims: To review the outcomes from a single institution experience of a regional referral practice in Lynch Syndrome (LS) Method: Service review. Surveillance was outpatient hysteroscopy, endometrial biopsy, CA 125 and TV ultrasound. Risk reducing surgery (RRS) was laparoscopic hysterectomy and bilateral salpingo-oophorectomy. Results: Since 2007 60 patients have had RRS and a further 7 patients are undergoing surveillance. There are 18 MLH-1, 17 MSH-2, 7 MSH-6 and 2 PMS-2 mutation carriers having risk reducing surgery with the balance having strong family history. The frequency of surgery is increasing with more referrals. The mean age for RRS is 45 years (range 32-62 yrs). 21 patients opted for surveillance, mean time period 3 years, with the longest screen being 11 years. Forty patients chose RRS, 25 within 6 months of the specialist clinic, 9 within 12 months (1 cancer at surgery aged 54 years), 6 within 24 months (1 cancer at surgery aged 48 years). There has been one ovarian cancer (stage 1A endometrioid) discovered at the time of removing an abnormal ovary at time of colorectal cancer surgery aged 41 years which precipitated diagnosis of LS. Three patients have had endometrial cancer detected at RRS, one stage 2 requiring adjuvant radiotherapy. Prior cancer in carriers include bowel and breast cancer. There have been no deaths. Conclusion: Centralised services provide excellent care for patients with cancer mutation