Polyposis syndromes in children and adolescents: a case series data analysis
Shlomi Cohen1, Anna Gorodnichenco, Batia Weiss
1aPediatric Gastroenterology and Nutrition Unit, Tel Aviv, 'Dana-Dwek' Children's Hospital, Tel Hashomer bPediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children's Hospital cSackler Faculty of Medicine, Tel Aviv University, Tel Aviv dPediatric Gastroenterology and Nutrition Unit, Carmel Medical Center eB. Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Insights
Familial adenomatous polyposis (FAP) is the most common pediatric polyposis syndrome. Early diagnosis and adherence to guidelines are crucial for preventing colon cancer and improving outcomes in children with FAP and other inherited polyposis syndromes.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Oncology
Background:
- Polyposis syndromes in children are rare, genetically diverse conditions.
- These syndromes increase the risk of gastrointestinal (GI) cancer.
- Limited epidemiologic data exists for pediatric polyposis syndromes.
Purpose of the Study:
- To summarize the 11-year experience with pediatric polyposis syndromes in three major Israeli tertiary centers.
- To characterize the clinical presentation, genetic profiles, and management of these syndromes in children.
Main Methods:
- Retrospective review of medical records for children under 18 diagnosed with polyposis syndromes (1999-2010).
- Data collected included disease presentation, genetic findings, surveillance protocols, and treatments.
- Analysis focused on identifying the most common syndromes and associated risk factors.
Main Results:
- Fifty pediatric patients with polyposis syndromes were identified.
- Familial adenomatous polyposis (FAP) was the most frequent (66%), with known mutations in 75.7%.
- Rectal bleeding was the most common symptom in symptomatic children; colon cancer was diagnosed in a 12.5-year-old FAP patient.
Conclusions:
- FAP is the predominant polyposis syndrome in the pediatric population studied.
- Colon cancer can occur early in FAP patients, highlighting the need for vigilant surveillance.
- Strict adherence to hereditary GI cancer guidelines is recommended to prevent morbidity and mortality.
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.
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