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.

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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

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article

A rare case of colonic adenocarcinoma in a pediatric patient

Nicole Hames, Hillary Bashaw, José E. Velázquez Vega, Kelsey Chatman et al.
JPGN Reports
Genetic factors in colorectal cancer
article

A rare case of colonic adenocarcinoma in a pediatric patient

Nicole Hames, Hillary Bashaw, José E. Velázquez Vega, Kelsey Chatman, Christine Kaba
article en

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.

JPGN ReportsVol. 6(4)
Emory University (US), Emory University Hospital (US), Children's Healthcare of Atlanta (US)
Emory University
Openalex Percentile: Top 82%
Genetic factors in colorectal cancer
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