A rare case of colonic adenocarcinoma in a pediatric patient
Lynch syndrome (LS) is an autosomal dominant condition caused by a loss of function in the deoxyribonucleic acid mismatch repair system. This case report presents a 17-year-old male with abdominal pain, weight loss, and anemia who was diagnosed with LS-associated adenocarcinoma of the colon in the setting of a mutS homolog 6 genetic mutation, which was confirmed by genetic testing. This highlights an urgent need to reevaluate current pediatric screening guidelines for hereditary cancer syndromes to prevent delayed diagnosis and improve outcomes. Family history-taking, genetic screening, and aggressive surveillance practices should also be integrated into standard pediatric care protocols.
Authors
- Nicole Hames
- Hillary Bashaw
- José E. Velázquez Vega (ORCID: https://orcid.org/0000-0003-3601-1759)
- Kelsey Chatman
- Christine Kaba (ORCID: https://orcid.org/0009-0002-2590-9504)
Institutions
- Emory University (US)
- Emory University Hospital (US)
- Children's Healthcare of Atlanta (US)
Publication Details
- Journal
- JPGN Reports
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1002/jpr3.70039
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Emory University