Ileostomy adenocarcinoma associated with familial adenomatous polyposis (FAP): new problem in old disease

Abstract

Dear Editor: Familial adenomatosis polyposis (FAP) is an autosomal dominant disease caused by germline mutations in the adenomatosis polyposis coli (APC) gene, which is located in chromosome 5. FAP occurs in approximately one in 5,000 to one in 10,000 live births and accounts for less than 1% of the total colorectal cancers in the USA. This disease is manifested by numerous adenomatous polyps of the large bowel and to a lesser extent in the gastric fundus, duodenal, periampullary, and small bowel. These colonic polyps invariably progress to adenocarcinoma, the risk of which approaches 100% by the fourth decade of life. With advancements made in the surgical techniques, prophylactic restorative proctocolectomy with ileoanal pouch anastomosis (IPAA) is currently the procedure of choice in younger, continent patients. Prior to the introduction of the restorative proctocolectomy with ileoanal pouch, total proctocolectomy with end ileostomy was the procedure most routinely performed in patients with FAP to completely abolish the colorectal mucosa and hence reduce the risk of colorectal malignancies. However, as these patients live longer and with functioning ileostomies of greater than 15–20 years, late development of adenocarcinoma has been reported in the literature. We describe another patient with FAP, who underwent total proctocolectomy and end ileostomy decades earlier, presented with a parastomal hernia and adenocarcinoma arising within a tubulovillous adenoma. To our knowledge, 11 cases including ours have been reported in English language journals. A 60-year-old white male patient with history of FAP, Gardner’s syndrome, underwent total proctocolectomy with end ileostomy in 1984. The final pathology then did not reveal any malignancy. He presented to surgical services in the year 2008 with complaints of a parastomal hernia, chronic skin irritation, and difficulty with proper placement of the stoma appliance. Examination revealed a reducible parastomal hernia in the right lower abdomen and multiple polypoidal projections of the mucosal surface of the ileostomy. A biopsy of the polyp was carried out, and the pathology revealed dilated adenomatous glands with severe dysplasia and dissecting pool of mucin diagnostic of adenocarcinoma. A staging workup was carried with a CT scan of the chest, abdomen, and pelvis which did not reveal any metastatic disease. Serum carcinoembryonic antigen (CEA) marker was within the normal range. An upper endoscopy did not reveal any abnormality, and an ileoscopy up to 80 cm through the ileostomy stoma did not reveal any other small bowel lesions. The patient underwent exploratory laparotomy and en bloc resection of the ileostomy with the surrounding skin, subcutaneous tissue, and distal 10 cm of the intraabdominal portion of the terminal ileum with its mesentery; repair of the hernial defect with a bioabsorbable mesh; and creation of a new ileostomy in the left lower quadrant. Postoperatively, he recovered well and was discharged without any complications. Int J Colorectal Dis (2009) 24:1475–1476 DOI 10.1007/s00384-009-0739-6