Multicenter Experience with Upper Gastrointestinal Polyps in Pediatric Patients with Familial Adenomatous Polyposis

Thomas M. Attard, Carmen Cuffari, Tanya Tajouri, Julie A. Stoner, Marcia T. Eisenberg, John H. Yardley, Susan C. Abraham, Deborah Perry, Jon Vanderhoof, Henry T. Lynch

Research output: Contribution to journalReview article

63 Citations (Scopus)

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. 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 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 (ρ = 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.

Original languageEnglish
Pages (from-to)681-686
Number of pages6
JournalAmerican Journal of Gastroenterology
Volume99
Issue number4
DOIs
StatePublished - Apr 2004

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Adenomatous Polyposis Coli
Polyps
Pediatrics
Endoscopy
Mutation
Codon
Adenoma
Hereditary Neoplastic Syndromes
Mutation Rate
Colonoscopy
Stomach
Adenocarcinoma
Biopsy

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cite this

Multicenter Experience with Upper Gastrointestinal Polyps in Pediatric Patients with Familial Adenomatous Polyposis. / Attard, Thomas M.; Cuffari, Carmen; Tajouri, Tanya; Stoner, Julie A.; Eisenberg, Marcia T.; Yardley, John H.; Abraham, Susan C.; Perry, Deborah; Vanderhoof, Jon; Lynch, Henry T.

In: American Journal of Gastroenterology, Vol. 99, No. 4, 04.2004, p. 681-686.

Research output: Contribution to journalReview article

Attard, TM, Cuffari, C, Tajouri, T, Stoner, JA, Eisenberg, MT, Yardley, JH, Abraham, SC, Perry, D, Vanderhoof, J & Lynch, HT 2004, 'Multicenter Experience with Upper Gastrointestinal Polyps in Pediatric Patients with Familial Adenomatous Polyposis', American Journal of Gastroenterology, vol. 99, no. 4, pp. 681-686. https://doi.org/10.1111/j.1572-0241.2004.04115.x
Attard, Thomas M. ; Cuffari, Carmen ; Tajouri, Tanya ; Stoner, Julie A. ; Eisenberg, Marcia T. ; Yardley, John H. ; Abraham, Susan C. ; Perry, Deborah ; Vanderhoof, Jon ; Lynch, Henry T. / Multicenter Experience with Upper Gastrointestinal Polyps in Pediatric Patients with Familial Adenomatous Polyposis. In: American Journal of Gastroenterology. 2004 ; Vol. 99, No. 4. pp. 681-686.
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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. 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 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 (ρ = 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.",
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AU - Attard, Thomas M.

AU - Cuffari, Carmen

AU - Tajouri, Tanya

AU - Stoner, Julie A.

AU - Eisenberg, Marcia T.

AU - Yardley, John H.

AU - Abraham, Susan C.

AU - Perry, Deborah

AU - Vanderhoof, Jon

AU - Lynch, Henry T.

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N2 - 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 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 (ρ = 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.

AB - 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 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 (ρ = 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.

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