title: Polyposis syndromes in children and adolescents: a case series data analysis.
abstract: BACKGROUND
  Polyposis syndromes in children are distinct entities clinically and pathologically. These syndromes have multiple genetic characteristics, with development of polyps at various sites of the gastrointestinal (GI) tract, and are associated with an increased risk of colon cancer. They are relatively rare, and have mostly been characterized in the adult population, whereas little epidemiologic data have been reported in children.
  
  
  OBJECTIVE
  The aim of this study was to summarize the pediatric experience collected over a period of 11 years on polyposis syndromes in three major Israeli tertiary centers.
  
  
  METHODS
  Medical records of children below 18 years old and their families, diagnosed with polyposis syndromes between 1999 and 2010, were reviewed. The data included disease presentation, genetic profile, surveillance, and treatment.
  
  
  RESULTS
  Fifty patients with polyposis syndromes were identified. The most frequent syndrome was familial adenomatous polyposis (FAP) in 33 children (66%), of whom 25 children (75.7%) had a known mutation. The mean age at presentation was 10.6±3.9 years (range 4-17 years). Most children were examined because of a family history of a polyposis syndrome (42 children, 84%). Among symptomatic children (32 children), the most frequent complaint was rectal bleeding (42%), followed by abdominal pain (22%), intussusception (10%), and diarrhea (4%). The youngest symptomatic patient was 4 years old at presentation, with rectal bleeding.All patients underwent multiple colonoscopies and upper GI endoscopies according to specific guidelines. Thirteen children underwent colonic surgery (39%); nine children had FAP. Adenocarcinoma of the colon was diagnosed in a 12.5-year-old child.
  
  
  CONCLUSIONS
  In this cohort study, FAP was the most common type of polyposis syndrome diagnosed in this pediatric population. Colon cancer was present at the onset of symptoms in a 12.5-year-old patient with FAP. We therefore recommend strict adherence to the hereditary GI cancer guidelines to prevent morbidity and mortality in FAP and other inherited polyposis syndromes.
authors.affiliation: aPediatric Gastroenterology and Nutrition Unit, Tel Aviv, 'Dana-Dwek' Children's Hospital, Tel Hashomer bPediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children's Hospital cSackler Faculty of Medicine, Tel Aviv University, Tel Aviv dPediatric Gastroenterology and Nutrition Unit, Carmel Medical Center eB. Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
authors.forename: Shlomi
authors.initials: S
authors.lastname: Cohen
authors.forename: Anna
authors.initials: A
authors.lastname: Gorodnichenco
authors.forename: Batia
authors.initials: B
authors.lastname: Weiss
authors.forename: Aaron
authors.initials: A
authors.lastname: Lerner
authors.forename: Amir
authors.initials: A
authors.lastname: Ben-Tov
authors.forename: Ayala
authors.initials: A
authors.lastname: Yaron
authors.forename: Shimon
authors.initials: S
authors.lastname: Reif
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003110:Colonic Neoplasms / Q000235:genetics; D016099:Endoscopy, Gastrointestinal / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007557:Israel / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy; D012189:Retrospective Studies