title: Multicenter experience with upper gastrointestinal polyps in pediatric patients with familial adenomatous polyposis.
abstract: BACKGROUND
  Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome that includes gastro-duodenal involvement, polyposis, and a propensity to adenocarcinoma necessitating endoscopic surveillance. There are few data describing pediatric upper gastrointestinal FAP resulting in conflicting screening recommendations.
  
  
  OBJECTIVE
  To characterize pediatric gastroduodenal FAP and to investigate the association between symptoms at endoscopy and APC mutation analysis with endoscopic-histologic findings warranting surveillance.
  
  
  METHODS
  A retrospective chart review was performed, including all children with FAP who underwent upper endoscopy (EGD) at two institutions; (UNMC: 1992-2002, JHH: 1983-2002), all biopsies were reviewed and the APC mutations present in the cohort of patients were correlated to the pattern of severity of endoscopic findings and the frequency of APC mutations identified through commercially available testing for FAP (Labcorp: 1998-2002).
  
  
  RESULTS
  Twenty-four patients from 21 families underwent 49 EGDs. Eighty-three percent were asymptomatic at the time of endoscopy. The most common finding was fundic gland polyposis (FGP) (51%), of which 42% and 15% harbored dysplasia and changes indefinite for dysplasia, respectively. Periampullary duodenal adenomata were present in 41% of patients with one patient necessitating ampullectomy. Symptoms at endoscopy were not predictive of premalignant changes. In 15 patients where the APC mutation was known patients with dysplastic FGP, gastric, or duodenal adenoma were more likely to harbor a mutation between codons 1225-1694 than the reference population (p= 0.006).
  
  
  CONCLUSIONS
  All pediatric patients with FAP warrant upper gastrointestinal screening and surveillance endoscopy from the time of initial colonoscopy irrespective of referable symptoms. Patients with APC mutation between codon 1225-1694 may be more susceptible to aggressive gastroduodenal involvement in FAP.
authors.affiliation: Department of Pediatrics, The University of Nebraska Medical Center, Omaha, NE 68198-5160, USA.
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Attard
authors.forename: Carmen
authors.initials: C
authors.lastname: Cuffari
authors.forename: Tanya
authors.initials: T
authors.lastname: Tajouri
authors.forename: Julie A
authors.initials: JA
authors.lastname: Stoner
authors.forename: Marcia T
authors.initials: MT
authors.lastname: Eisenberg
authors.forename: John H
authors.initials: JH
authors.lastname: Yardley
authors.forename: Susan C
authors.initials: SC
authors.lastname: Abraham
authors.forename: Deborah
authors.initials: D
authors.lastname: Perry
authors.forename: Jon
authors.initials: J
authors.lastname: Vanderhoof
authors.forename: Henry
authors.initials: H
authors.lastname: Lynch
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D016145:Endoscopy, Digestive System; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D011127:Polyps / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D011230:Precancerous Conditions; D012189:Retrospective Studies