Work

A rare case of colonic adenocarcinoma in a pediatric patient

Year: 2025

Type: article

Abstract: 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.

Source: JPGN Reports

DOI: 10.1002/jpr3.70039

Authors: Christine Kaba, Kelsey Chatman, Nicole Hames, Jose E. Velazquez Vega, Hillary Bashaw

Institutions: Emory University, Children's Healthcare of Atlanta

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $1,900