Genetic Testing in Gastrointestinal Polyposis Syndromes: Considerations in Pediatrics.
Suzanne P MacFarland1,2, Kristin Zelley1, Isabel Rojas3
1Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Genes
|June 26, 2026
Summary
Pediatric gastrointestinal polyps signal hereditary syndromes, increasing early cancer risk. Genetic testing is crucial for diagnosis, management, and family screening, guiding clinical steps and surveillance.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Cancer Predisposition Syndromes
Background:
- Pediatric gastrointestinal polyps often indicate underlying hereditary syndromes.
- These syndromes are linked to multisystem issues and heightened early-onset cancer risk.
- Early identification is vital for timely intervention and management.
Purpose of the Study:
- To propose a stepwise genetic testing approach for children with gastrointestinal polyps.
- To guide clinicians in characterizing hereditary syndromes and informing management.
- To facilitate cascade testing for affected family members.
Main Methods:
- Review of current literature on pediatric polyposis syndromes.
- Analysis of genetic testing strategies in pediatric populations.
- Development of a tiered testing protocol based on clinical presentation.
Main Results:
- Genetic testing confirms hereditary syndromes in a significant proportion of pediatric polyp cases.
- Syndrome characterization guides specific surveillance and management plans.
- Cascade testing identifies at-risk relatives, enabling early detection.
Conclusions:
- Genetic testing is essential for pediatric gastrointestinal polyps to identify hereditary cancer syndromes.
- A structured, stepwise approach optimizes genetic testing in children.
- This strategy improves patient care and facilitates family-wide risk assessment.
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