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

Khalid Al-Thihli, Laura Palma*, Victoria Marcus, Matthew Cesari, Yael B. Kushner, Allan Barkun, William D. Foulkes

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

28 Citations (SciVal)


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.

Original languageEnglish
Pages (from-to)184-189
Number of pages6
JournalNature Clinical Practice Gastroenterology and Hepatology
Issue number3
Publication statusPublished - 2009
Externally publishedYes

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


Dive into the research topics of 'A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis'. Together they form a unique fingerprint.

Cite this