Multicenter experience with upper gastrointestinal polyps in pediatric patients with familial adenomatous polyposis
Thomas M Attard1, Carmen Cuffari, Tanya Tajouri
1Department of Pediatrics, The University of Nebraska Medical Center, Omaha, NE 68198-5160, USA.
Insights
Pediatric familial adenomatous polyposis (FAP) patients require upper gastrointestinal screening. Specific APC mutations may indicate a higher risk for aggressive gastroduodenal disease, necessitating early surveillance.
Area of Science:
- Gastroenterology
- Pediatric Oncology
- Genetics
Background:
- Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome impacting the gastrointestinal tract.
- Pediatric upper gastrointestinal FAP data is limited, leading to inconsistent screening guidelines.
- Early surveillance is crucial for managing FAP-related gastrointestinal complications.
Purpose of the Study:
- To characterize gastroduodenal manifestations of FAP in pediatric patients.
- To correlate endoscopic findings with APC mutation analysis in children with FAP.
- To inform updated screening and surveillance recommendations for pediatric FAP.
Main Methods:
- Retrospective chart review of pediatric FAP patients undergoing upper endoscopy (EGD) at two institutions.
- Review of all endoscopic biopsies to assess histologic findings.
- Correlation of APC mutation status with endoscopic and histologic severity.
Main Results:
- Eighty-three percent of pediatric FAP patients were asymptomatic during endoscopy.
- Fundic gland polyposis (FGP) was the most common finding (51%), with significant rates of dysplasia.
- Periampullary duodenal adenomata were observed in 41% of patients; APC mutations between codons 1225-1694 were linked to more severe gastroduodenal disease.
Conclusions:
- All pediatric FAP patients necessitate upper gastrointestinal screening and surveillance endoscopy.
- Screening should commence concurrently with initial colonoscopy, regardless of symptoms.
- Specific APC mutations may predict a higher susceptibility to aggressive upper gastrointestinal 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.
