Total Gastrectomy for Gastric Dysplasia in a Patient With Attenuated Familial Adenomatous Polyposis Syndrome

A 31-year-old woman was referred to our institution in June 2007 for evaluation of moderate gastric dysplasia in the setting of numerous fundic gland polyps. The patient’s family is known to carry a mutation associated with attenuated familial adenomatous polyposis (AFAP), and her siblings and mother have clinical manifestations of the disease. Before her referral, the patient had annual screening colonoscopy and upper endoscopy starting at age 17 years. Her surveillance colonoscopies never demonstrated more than a single adenomatous polyp that was resected endoscopically. In contrast, on initial upper endoscopy, she was found to have numerous small polyps involving the majority of her stomach. Biopsy of these small polyps demonstrated fundic gland-type polypsis characterized by cystically dilated and irregularly budded fundic glands. Subsequently, an upper endoscopy in April 2007 showed at least three dominant polypoid lesions within this carpet of small fundic gland polyps along the greater curvature of the stomach, each measuring approximately 3 cm in diameter. Pathological analysis of these areas revealed multiple fundic gland polyps with adenomatous features and mild to moderate dysplasia. Computed tomography of the abdomen and pelvis revealed thickening of the anterior wall of the stomach and antrum, but found no other appreciable lesions within the peritoneal cavity. (Fig 1, white arrow) After preoperative evaluation, she underwent a total gastrectomy with roux-en-y esophagojejunostomy with feeding jejunostomy in early July 2007. Exploratory laparotomy revealed no evidence of extra-gastric disease. After resection, the stomach was found to have a 17 16 cm area with numerous small polyps studding the mucosal surface. (Fig 2) She had an uneventful postoperative course and was discharged 10 days after the operation requiring jejunostomy tubefeeding. Final pathologic evaluation showed fundic gland-type gastric polyposis with multiple areas of high grade dysplasia in a background of patchy low grade dysplasia. (Fig 3, 400 ) Fortunately, there were no areas containing invasive carcinoma. Familial adenomatous polyposis (FAP) is a rare, but wellcharacterized autosomal dominant condition in which affected individuals develop hundreds of colonic polyps beginning in adolescence and early adulthood (age 20 to 30 years). FAP is caused by mutations in the adenomatous polypsis coli (APC) tumor suppressor gene on chromosome 5q. AFAP differs from FAP in that patients clinically develop fewer colonic polyps ( 100) and at a later age (30 to 40 years) than patients with full-blown FAP. Genetically, germline APC mutations in the first four coding exons, in the alternatively spliced region