Polyposis syndromes in children and adolescents: A case series data analysis

Shlomi Cohen*, Anna Gorodnichenco, Batia Weiss, Aaron Lerner, Amir Ben-Tov, Ayala Yaron, Shimon Reif

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


BACKGROUND: Polyposis syndromes in children are distinct entities clinically and pathologically. These syndromes have multiple genetic characteristics, with development of polyps at various sites of the gastrointestinal (GI) tract, and are associated with an increased risk of colon cancer. They are relatively rare, and have mostly been characterized in the adult population, whereas little epidemiologic data have been reported in children. AIMS: The aim of this study was to summarize the pediatric experience collected over a period of 11 years on polyposis syndromes in three major Israeli tertiary centers. PATIENTS AND METHODS: Medical records of children below 18 years old and their families, diagnosed with polyposis syndromes between 1999 and 2010, were reviewed. The data included disease presentation, genetic profile, surveillance, and treatment. RESULTS: Fifty patients with polyposis syndromes were identified. The most frequent syndrome was familial adenomatous polyposis (FAP) in 33 children (66%), of whom 25 children (75.7%) had a known mutation. The mean age at presentation was 10.6±3.9 years (range 4-17 years). Most children were examined because of a family history of a polyposis syndrome (42 children, 84%). Among symptomatic children (32 children), the most frequent complaint was rectal bleeding (42%), followed by abdominal pain (22%), intussusception (10%), and diarrhea (4%). The youngest symptomatic patient was 4 years old at presentation, with rectal bleeding.All patients underwent multiple colonoscopies and upper GI endoscopies according to specific guidelines. Thirteen children underwent colonic surgery (39%); nine children had FAP. Adenocarcinoma of the colon was diagnosed in a 12.5-year-old child. CONCLUSION: In this cohort study, FAP was the most common type of polyposis syndrome diagnosed in this pediatric population. Colon cancer was present at the onset of symptoms in a 12.5-year-old patient with FAP. We therefore recommend strict adherence to the hereditary GI cancer guidelines to prevent morbidity and mortality in FAP and other inherited polyposis syndromes.

Original languageEnglish
Pages (from-to)972-977
Number of pages6
JournalEuropean Journal of Gastroenterology and Hepatology
Issue number9
StatePublished - Sep 2014


  • Peutz-Jeghers syndrome
  • children
  • familial adenomatous polyposis
  • hamartomatous polyposis
  • juvenile polyposis


Dive into the research topics of 'Polyposis syndromes in children and adolescents: A case series data analysis'. Together they form a unique fingerprint.

Cite this