Evaluation of Guidelines for Management of Familial Adenomatous Polyposis in a Multicenter Pediatric Cohort

Munck, Anne*; Gargouri, Lamia*; Alberti, Corinne; Viala, Jerome*; Peuchmaur, Michel; Lenaerts, Catherine§; Michaud, Laurent||; Lamireau, Thierry; Mougenot, Jean Francois*,†,‡,§,||,¶,#; Dabadie, Alain**; Maurage, Chantal††; Lachaux, Alain‡‡; Scaillon, Michele§§; Languepin, Jane||||; Spyckerelle, Claire¶¶; Meyer, Martine##; Olschwang, Sylvianne***

Journal of Pediatric Gastroenterology & Nutrition: September 2011 - Volume 53 - Issue 3 - p 296–302
doi: 10.1097/MPG.0b013e3182198f4d
Original Articles: Gastroenterology

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.

*Pediatric Gastroenterology, Nutrition, and Cystic Fibrosis Department

Clinical Epidemiology Department

Pathology Department, Assistance Publique-Hôpitaux de Paris, Université Paris 7, Hôpital Robert Debré, Paris

§CHU Amiens, Amiens

||CHRU Jeanne de Flandres, Lille

CHU Pellegrin, Bordeaux

#Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université Paris 5, Hôpital Necker, Paris

**CHU Hopital Sud, Rennes

††CHU Clocheville, Tours

‡‡CHU HFME, Lyon, France

§§CHU Reine Fabiola, Brussels, Belgium

||||CHU Dupuytren, Limoges

¶¶Hospital Saint Vincent Lille

##CHU Hotel Dieu, Clermont Ferrand

***Centre de Recherche en Cancérologie, UMR891 and Institut Paoli-Calmettes, Marseille, France.

Address correspondence and reprint requests to Dr Anne Munck, Pediatric Gastroenterology, Nutrition, and Cystic Fibrosis Department, University Hospital Robert Debre, AP-HP, 48 bd Serurier 75019 Paris, France (e-mail: anne.munck@rdb.aphp.fr).

Received 1 September, 2010

Accepted 9 March, 2011

The authors report no conflicts of interest.

Copyright 2011 by ESPGHAN and NASPGHAN