Cowden's Disease Detected by Gastric Polyposis during Endoscopy in a Routine Check Up: A Case Report.
- Author:
Ji Eun YI
1
;
Dae Hyeon CHO
;
Jae Gon WOO
;
Oh Un KWON
;
Kyoung Won JUNG
;
Chang Wook JUNG
;
Gil Jong YOO
;
Sang Goon SIM
Author Information
1. Department of Internal Medicine, Masan Samsung Medical Center, Sungkyunkawn University College of Medicine, Masan, Korea. meddrcho@hanmail.net
- Publication Type:Case Report
- Keywords:
Cowden's disease;
Esophageal acanthosis;
Gastric polyposis;
PTEN gene mutation
- MeSH:
Breast;
Clinical Coding;
Endometrium;
Endoscopy;
Female;
Germ-Line Mutation;
Hamartoma Syndrome, Multiple;
Humans;
Mass Screening;
Prostate;
Thyroid Neoplasms
- From:Korean Journal of Gastrointestinal Endoscopy
2010;40(6):361-365
- CountryRepublic of Korea
- Language:Korean
-
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.
