title: Evaluation of guidelines for management of familial adenomatous polyposis in a multicenter pediatric cohort.
abstract: OBJECTIVE
  To retrospectively assess, in a pediatric multicenter cohort, guidelines for the management of familial adenomatous polyposis (FAP).
  
  
  METHODS
  Ten centers from the French-speaking Pediatric Gastroenterology Hepatology and Nutrition Group provided follow-up data on patients up to 18 years of age. Clinical records, genetic test results, endoscopy with histopathology examination, and therapeutic modalities were reviewed.
  
  
  RESULTS
  A total of 70 children from 47 families were included. When initial consultation resulted from a surveillance program because of an affected family member, 12 of 59 children were already symptomatic. Among 11 patients whose initial consultation was based only on symptoms, families were unaware at the time of a familial FAP history for 7 children, whereas only 4 cases were sporadic. A panel of 27 different pathogenic adenomatous polyposis coli (APC) germ-line mutations and large genomic deletions were identified in 43 families. Extracolonic manifestations were found in half of the patients. As part of the standard practice for initial screening, the entire cohort underwent colonoscopy, which revealed adenoma above an intact rectosigmoid in 8 cases. Prophylactic colectomy was performed in 42 cases; high-grade dysplastic adenoma and 1 invasive carcinoma were detected in 6 children. For timing of surgery, indications were in accordance with recent international guidelines.
  
  
  CONCLUSIONS
  Defining optimal screening and therapeutic modalities in pediatric FAP cohorts is a challenge. Specific advice for genetic screening, endoscopy surveillance, and type of surgery based on recent guidelines is recommended.
authors.affiliation: Pediatric Gastroenterology, Nutrition, and Cystic Fibrosis Department Clinical Epidemiology, Assistance Publique-Hôpitaux de Paris, Université Paris 7, Hôpital Robert Debré, France. anne.munck@rdb.aphp.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Munck
authors.forename: Lamia
authors.initials: L
authors.lastname: Gargouri
authors.forename: Corinne
authors.initials: C
authors.lastname: Alberti
authors.forename: Jerome
authors.initials: J
authors.lastname: Viala
authors.forename: Michel
authors.initials: M
authors.lastname: Peuchmaur
authors.forename: Catherine
authors.initials: C
authors.lastname: Lenaerts
authors.forename: Laurent
authors.initials: L
authors.lastname: Michaud
authors.forename: Thierry
authors.initials: T
authors.lastname: Lamireau
authors.forename: Jean Francois
authors.initials: JF
authors.lastname: Mougenot
authors.forename: Alain
authors.initials: A
authors.lastname: Dabadie
authors.forename: Chantal
authors.initials: C
authors.lastname: Maurage
authors.forename: Alain
authors.initials: A
authors.lastname: Lachaux
authors.forename: Michele
authors.initials: M
authors.lastname: Scaillon
authors.forename: Jane
authors.initials: J
authors.lastname: Languepin
authors.forename: Claire
authors.initials: C
authors.lastname: Spyckerelle
authors.forename: Martine
authors.initials: M
authors.lastname: Meyer
authors.forename: Sylvianne
authors.initials: S
authors.lastname: Olschwang
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D002648:Child; D003082:Colectomy; D003113:Colonoscopy; D005069:Evaluation Studies as Topic; D005260:Female; D005500:Follow-Up Studies; D017491:Genes, APC; D056726:Genetic Association Studies; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D017410:Practice Guidelines as Topic; D012189:Retrospective Studies; D011795:Surveys and Questionnaires