Case Report
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World J Gastroenterol. Feb 28, 2012; 18(8): 861-864
Published online Feb 28, 2012. doi: 10.3748/wjg.v18.i8.861
A case of Cowden syndrome diagnosed from multiple gastric polyposis
Minsu Ha, Jun Won Chung, Ki Baik Hahm, Yoon Jae Kim, Woochang Lee, Jungsuk An, Dong Kyu Kim, Myeong Gun Kim
Minsu Ha, Jun Won Chung, Ki Baik Hahm, Yoon Jae Kim, Dong Kyu Kim, Myeong Gun Kim, Division of Gastroenterology, Department of Internal Medicine, Gachon Graduate School of Medicine, Gil Medical Center, Incheon 405-760, South Korea
Woochang Lee, Department of Laboratory Medicine, Asan Medical Center, Seoul 138-736, South Korea
Jungsuk An, Department of Patholgy, Gachon University Gil Hospital, Incheon 405-760, South Korea
Author contributions: Ha M and Chung JW made substantial contributions in reviewing the case and Cowden’s disease and compiling the laboratory data and endoscopic images; Lee W contributed to gene sequencing and analysis; An J performed the histopathological analysis; Hahm KB, Kim YJ, Kim DK and Kim MG contributed to compiling the laboratory data and endoscopic images; and all authors gave their approval in publishing this version of the manuscript.
Correspondence to: Jun Won Chung, MD, Assistant Professor, Division of Gastroenterology, Department of Internal Medicine, Gachon Graduate School of Medicine, Gil Medical Center, 1198 Guwol-dong, Namdong-gu, Incheon 405-760, South Korea. junwonchung@daum.net
Telephone: +82-32-4603408 Fax: +82-32-4603778
Received: July 29, 2011
Revised: September 23, 2011
Accepted: January 7, 2012
Published online: February 28, 2012
Abstract

Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN) gene, which is the tumor suppressor gene located on chromosome 10q23.3. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal (GI) tract, bones, central nervous system, eyes, and genitourinary tract. Cowden syndrome does not have increased risk of GI malignancy; however, it has an increased risk of breast, thyroid and endometrial cancer development. Here the authors report a rare case of Cowden syndrome incidentally diagnosed from multiple gastric polyposis. A 29-year-old woman presented with multiple gastric polyps. The laboratory results were normal except for mild anemia, with a hemoglobin level of 11.9 g/dL. Esophagogastroduodenoscopy revealed multiple gastric, duodenal polyps and esophageal acanthosis. Colonoscopy revealed possible hamartomatous polyps in the rectum. Under the suspicion of Cowden syndrome, sonography of the thyroid and breasts was carried out, which revealed multiple thyroid masses. Subsequent fine-needle aspiration biopsy revealed the presence of clusters of follicular epithelial cells, and due to the possibility of malignancy, the patient underwent total thyroidectomy. The pathology was reported as invasive follicular carcinoma. A gene study by direct sequencing showed the presence of a PTEN mutation (c.633C > A /p.Cys211*).

Keywords: Cowden syndrome; Gastric polyposis; Pho-sphatase and tensin homologue mutation; Esophageal acanthosis; Thyroid cancer