Genetic factors in colorectal cancer
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The management of Gardner syndrome focuses on cancer prevention, surveillance, and treatment of extracolonic manifestations, with prophylactic colectomy considered when the polyp burden becomes unmanageable, high-grade dysplasia is detected, or colorectal cancer is suspected.
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Gardner syndrome is a phenotypic variant of Familial Adenomatous Polyposis (FAP), characterized by gastrointestinal polyposis and various extracolonic features. Gardner syndrome exhibits significant variability in extraintestinal features, often leading to underdiagnosis. Diagnosis involves recognizing the clinical constellation of features, supported by genetic testing. We present a case of a 40-year-old man with a history of abdominal pain, bloody diarrhea, and subcutaneous nodules with a family history of malignancy-related deaths in first- and second-degree relatives. Endoscopic evaluation revealed multiple polyps in the stomach, duodenum, and colon, with a large rectal polyp. Genetic testing identified a pathogenic variant in the APC gene, consistent with Gardner syndrome, and the patient underwent total proctocolectomy. The management of Gardner syndrome focuses on cancer prevention, surveillance, and treatment of extracolonic manifestations, with prophylactic colectomy considered when the polyp burden becomes unmanageable, high-grade dysplasia is detected, or colorectal cancer is suspected.
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@article{Bagrodia2026Gardner,
title = {Gardner Syndrome: A Phenotypic Variant of Familial Adenomatous Polyposis},
author = {Amit Bagrodia and Venkatesh Vaithiyam and Surbhi Goyal and Ashok Dalal and Sanjeev Sachdeva},
journal = {Clinical Insight Reports Journal of Global Medical Cases},
year = {2026},
doi = {10.67375/3143-3383/cir-jgmc.01.009},
url = {https://doi.org/10.67375/3143-3383/cir-jgmc.01.009}
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