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. OBJECTIVES: To characterize pediatric gastroduodenal FAP and to investigate the association between symptoms at endoscopy and APC mutation analysis with endoscopic-histologic findings warranting surveillance. METHOD: 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.
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. OBJECTIVES: To characterize pediatric gastroduodenal FAP and to investigate the association between symptoms at endoscopy and APC mutation analysis with endoscopic-histologic findings warranting surveillance. METHOD: 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: Tianle Ma; Eun Jeong Jang; Lawrence R Zukerberg; Robert Odze; Manish K Gala; Peter B Kelsey; David G Forcione; William R Brugge; Brenna W Casey; Sapna Syngal; Daniel C Chung Journal: Surg Endosc Date: 2014-02-25 Impact factor: 4.584
Authors: Jun Li; Susan L Woods; Sue Healey; Jonathan Beesley; Xiaoqing Chen; Jason S Lee; Haran Sivakumaran; Nicci Wayte; Katia Nones; Joshua J Waterfall; John Pearson; Anne-Marie Patch; Janine Senz; Manuel A Ferreira; Pardeep Kaurah; Robertson Mackenzie; Alireza Heravi-Moussavi; Samantha Hansford; Tamsin R M Lannagan; Amanda B Spurdle; Peter T Simpson; Leonard da Silva; Sunil R Lakhani; Andrew D Clouston; Mark Bettington; Florian Grimpen; Rita A Busuttil; Natasha Di Costanzo; Alex Boussioutas; Marie Jeanjean; George Chong; Aurélie Fabre; Sylviane Olschwang; Geoffrey J Faulkner; Evangelos Bellos; Lachlan Coin; Kevin Rioux; Oliver F Bathe; Xiaogang Wen; Hilary C Martin; Deborah W Neklason; Sean R Davis; Robert L Walker; Kathleen A Calzone; Itzhak Avital; Theo Heller; Christopher Koh; Marbin Pineda; Udo Rudloff; Martha Quezado; Pavel N Pichurin; Peter J Hulick; Scott M Weissman; Anna Newlin; Wendy S Rubinstein; Jone E Sampson; Kelly Hamman; David Goldgar; Nicola Poplawski; Kerry Phillips; Lyn Schofield; Jacqueline Armstrong; Cathy Kiraly-Borri; Graeme K Suthers; David G Huntsman; William D Foulkes; Fatima Carneiro; Noralane M Lindor; Stacey L Edwards; Juliet D French; Nicola Waddell; Paul S Meltzer; Daniel L Worthley; Kasmintan A Schrader; Georgia Chenevix-Trench Journal: Am J Hum Genet Date: 2016-04-14 Impact factor: 11.025
Authors: Daniel Gustavo Cimmino; José Manuel Mella; Pablo Luna; Raquel González; Lisandro Pereyra; Carolina Fischer; Adriana Mohaidle; Beatriz Vizcaino; Mario Andres Medrano; Adrián Hadad; Silvia Pedreira; Luis Boerr Journal: World J Gastrointest Endosc Date: 2013-05-16
Authors: Susanne W Carmack; Robert M Genta; David Y Graham; Gregory Y Lauwers Journal: Nat Rev Gastroenterol Hepatol Date: 2009-06 Impact factor: 46.802