FAMILIAL ADENOMATOUS POLYPOSIS IN CHILDREN UNDER 10; PRESENTATION AND CLINICAL OUTCOME: WHO GOES TO COLECTOMY?

Abstract

Background: Familial Adenomatous Polyposis (FAP) is an autosomal dominant inherited predisposition to early development of colorectal cancer (CRC) and increased risk of other, including extraintestinal, malignancies. Children aged less than 10 years are at a heightened risk of hepatoblastoma and may also present with polyps and rarely with CRC. Heirein we describe our experience as a multidisciplinary pediatric hereditary gastrointestinal polyposis clinic. Methods: A cross-sectional analysis including demographic, clinical presentation and course, gene mutation testing, endoscopic-histololgic findings and surgical outcome of all patients suspected or confirmed with FAP presenting in the first decade of life and followed by the multidisciplinary Pediatric Hereditary Polyposis Clinic at the University of Nebraska Medical Center and Creighton University. Results: 22 children (M;11) including 3 sibling pairs presented with suspected or confirmed FAP, 2 were discharged from follow up following negative APC gene mutation testing, all the rest continued to be tested for elevated ? αfetoprotein and ultrasound of the abdomen throughout the first decade of life. 12 patients presented with symptoms, 6 had de-novo FAP, 7 had gastrointestinal hemorrhage and went on to endoscopy, 4 patients were referred for colectomy, all 4 harbored APC gene mutation at codon 1309. The age at referral to colectomy was earlier for patients with 1309 mutation compared to patients who harbored other mutations or were untested (mean 8.6 years vs. 16 years P = 0.03). Conclusions: Children with FAP under the age of 10 may present presymptomatically for disease surveillance. De-novo and inherited FAP associated with APC gene mutation at codon 1309 entails a risk of a more aggressive phenotype; early colectomy may be indicated in children harboring this gene mutation.