OUTCOMES OF PATIENTS WITH LYNCH SYNDROME UNDERGOING RESTORATIVE PROCTOCOLECTOMY WITH ILEAL POUCH ANAL ANASTOMOSIS
Marianna Maspero*, David Liska, Ana Otero Pineiro, Carol A. Burke, Carole Macaron, Joshua Sommovilla, Michael Valente, Emre Gorgun, Hermann Kessler, Scott Steele, Tracy L. Hull
Cleveland Clinic, Cleveland, OH
Background: Rectal cancer patients with Lynch syndrome are at increased risk of developing metachronous colon cancer following segmental resection. Current guidelines recommend proctectomy or total proctocolectomy depending on age, pathogenic variant, sphincter involvement, and need for radiation. The aim of this study was to investigate oncological outcomes and quality of life of patients with Lynch syndrome who have undergone IPAA.
Methods: We retrospectively analyzed our hereditary colorectal cancer registry and prospectively collected institutional pelvic pouch registry and identified patients who underwent IPAA in the setting of Lynch syndrome.
Results: Between 1999 and 2020, 25 patients underwent IPAA in the setting of Lynch syndrome (21) or HNPCC (4) (10 (40%) female, median age 49 (IQR 36 – 55) years). At genetic testing, pathogenic variants were identified in MLH1 in 6 (30%), in MSH2 in 14 (70%), and in MSH6 in 2 (10%) patients. Medical history was positive for extracolonic cancers in 10 (40%) patients. Ten (40%) patients had a history of colorectal cancer and segmental colectomy prior to IPAA. Indication for IPAA was cancer in 22 (88%) cases, of which 3 were multisite involving the colon and rectum (Table 1); dysplasia in 2 (8%) cases (one high grade, one low grade); and poor function of prior ileorectal anastomosis in one (4%) case. Two (4%) patients underwent neoadjuvant chemoradiation prior to IPAA. Final pathology was adenocarcinoma in 19 (76%) cases, dysplasia in 2 (8%) cases, and no residual cancer in 4 (16%) cases. Four patients (16%) received adjuvant chemotherapy. After a median follow up of 8 (4 – 9) years, 2 (8%) deaths occurred, one (4%) cancer-related. Two (8%) developed a metachronous cancer (one jejunal, one in a long rectal cuff), one (4%) had a local recurrence at the IPAA, and one (4%) had a distal recurrence with metastases to lung and liver. Pouch failure occurred in 2 (8%) cases, due to metachronous lesion at the rectal cuff and pouch volvulus, respectively; median time to pouch failure was 29 (26 – 32) months. One (4%) patient had a redo pouch procedure due to recurrence at the IPAA. At 5 years, overall survival was 95%, disease free survival was 85%, and pouch survival was 91%. Postoperative Cleveland Global Quality of Life surveys were available for 21 (84%) patients. After a median interval of 37 (18 – 120) months, the overall quality of life score (0 -1) was 0.7 (0.6 – 0.9). Dietary restrictions were reported by 22% of patients, social restrictions by 11%, work restrictions by 22%, and sexual restrictions by 22%.
Conclusion: In select patients with Lynch syndrome, restorative proctocolectomy with IPAA is associated with excellent long term oncological outcomes, pouch survival, and quality of life. These outcomes can help inform treatment decision making for Lynch patients with rectal cancer.
Table 1. Final pathology of patients undergoing IPAA in the setting of Lynch syndrome or HNPCC for adenocarcinoma
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