Korean J Gastrointest Endosc > Volume 40(6); 2010 > Article
Korean Journal of Gastrointestinal Endoscopy 2010;40(6): 361-365.
건강검진 내시경에서 위용종증이 발견되어 진단된 코우덴병의 1예
이지은ㆍ조대현ㆍ우재곤ㆍ권오언ㆍ정경원ㆍ정창욱ㆍ유길종ㆍ심상군
성균관대학교 의과대학 마산삼성병원 내과학교실
Cowden's Disease Detected by Gastric Polyposis during Endoscopy in a Routine Check Up: A Case Report
Ji Eun Yi, M.D., Dae Hyeon Cho, M.D., Jae Gon Woo, M.D., Oh Un Kwon, M.D., Kyoung Won Jung, M.D., Chang Wook Jung, M.D., Gil Jong Yoo, M.D. and Sang Goon Sim, M.D.
Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine, Masan, Korea
Abstract
Cowden's disease, a rare autosomal dominant disorder characterized by benign hamartomatous overgrowth of various tissues, increases the risk of cancer of the thyroid, breast, endometrium, prostate, and possibly other organs. Generally, germline mutations in the coding sequence for PTEN are found in 80% of patients with Cowden's disease. Here we report a rare case of incidentally discovered gastric polyposis during esophagogastroscopy for medical screening in a patient with a history of surgery for breast and thyroid cancer. Identifyng the mutation in the PTEN gene to a diagnosis of Cowden's disease. (Korean J Gastrointest Endosc 2010;40:361-365)
Key Words: Cowden's disease, Esophageal acanthosis, Gastric polyposis, PTEN gene mutation
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