Abstract
BackgroundPatients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to prospectively describe the duodenal and gastric polyp phenotype in a cohort of 150 FAP patients undergoing pre-screening for a chemoprevention trial and analyze variables that may affect recommendations for surveillance.MethodsIndividuals with a diagnosis of FAP underwent prospective esophagogastroduodenoscopy using a uniform system of mapping of size and number of duodenal polyps for a 10 cm segment. Gastric polyps were recorded as the total number.ResultsThe distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p < 0.0001). The number of gastric polyps did not differ based on genotype (p = 0.67) but advancing age correlated with severity of gastric polyposis (p = 0.019). Spigelman (modified) staging of II or greater was found in 88% of classic FAP patients and 48% attenuated FAP patients. Examples of severe and mild upper GI phenotype are observed in patients with identical APC mutations, showing that the APC mutation location is not absolutely predictive of an upper GI phenotype.ConclusionsMost FAP patients have duodenal and gastric polyps which become more prevalent and advanced with age. Standard upper endoscopic surveillance is recommended based on personal history independent of APC mutation location.Trial registrationNCT 01187901 registered August 24, 2010, prospective to enrollment.
Highlights
Patients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer
As increasing numbers of prophylactic colectomies are performed to decrease colorectal cancer risk, desmoids and duodenal cancer are the main cause of morbidity in patients with FAP [3]
Duodenal adenomas are estimated to occur in 50– 90% of patients with FAP, with approximately 5% of duodenal polyps progressing to cancer [4, 5]
Summary
Patients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. As increasing numbers of prophylactic colectomies are performed to decrease colorectal cancer risk, desmoids and duodenal cancer are the main cause of morbidity in patients with FAP [3]. Duodenal adenomas are estimated to occur in 50– 90% of patients with FAP, with approximately 5% of duodenal polyps progressing to cancer [4, 5]. Lifetime risks of duodenal and gastric cancers are estimated to be 4– 12 and < 1% respectively
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