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A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis

Nature Reviews Gastroenterology & Hepatology volume 6, pages 184–189 (2009)Cite this article

Abstract

Background A 73-year-old white man was referred to a cancer genetics clinic for evaluation of a ∼20-year history of mixed upper and lower gastrointestinal polyposis, including hyperplastic, inflammatory and adenomatous polyps, colonic ganglioneuromas, and associated diffuse, esophageal glycogenic acanthosis. Two synchronous gastric carcinomas had been identified before referral and the patient had undergone a total gastrectomy, omentectomy and cholecystectomy. Multiple hyperplastic polyps and small, sessile polyps were also observed in the gastrectomy specimen.

Investigations History and physical examination, upper and lower gastrointestinal endoscopy and biopsy, genetic testing, molecular pathology investigations (immunohistochemistry), thyroid ultrasonography, fine-needle aspiration of a thyroid nodule.

Diagnosis Cowden's syndrome.

Management Genetic counseling, thyroidectomy, vitamin B12 supplementation, continued endoscopic surveillance and genetic testing of at-risk family members.

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Figure 1: Histological and endoscopic features of the case patient.
Figure 2: PTEN immunohistochemistry results that show positive (brown) staining within endothelial cells (internal control) and no staining of the adenocarcinoma (counterstained with hematoxylin and eosin, magnification ×400).

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Acknowledgements

Désirée Lie, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the Medscape-accredited continuing medical education activity associated with this article.

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Authors and Affiliations

  1. K Al-Thihli is a fifth-year Resident in the Department of Human Genetics, and L Palma is a Genetic Counselor in the Department of Medical Genetics, V Marcus is a Surgical Pathologist and Assistant Professor and M Cesari and YB Kushner are Residents in Pathology in the Department of Pathology, and Professor of Gastroenterology in the Department of Medicine, Department of Oncology and Human Genetics, and in the Department of Medical Genetics, A Barkun is a Research Scholar (Chercheur National) of the Fonds de la Recherche en Santé du Québec, and WD Foulkes is an Associate Professor and Director of the Program in Cancer Genetics, all at McGill University Health Centre, Montreal, Quebec, Canada.,

    Khalid Al-Thihli, Laura Palma, Victoria Marcus, Matthew Cesari, Yael B Kushner, Alan Barkun & William D Foulkes

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  1. Khalid Al-Thihli
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Correspondence to Laura Palma.

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The authors declare no competing financial interests.

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Al-Thihli, K., Palma, L., Marcus, V. et al. A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis. Nat Rev Gastroenterol Hepatol 6, 184–189 (2009). https://doi.org/10.1038/ncpgasthep1359

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