title: Cowden syndrome complicated by a gastrointestinal stromal tumor.
abstract: To our knowledge, this is the first report of Cowden syndrome complicated by a gastrointestinal stromal tumor (GIST) of the small bowel. A 42-year-old female patient was found to have an abdominal mass that was diagnosed as the cause of anemia and was surgically extracted. The surgical specimen was found to be a GIST. During the same period, the patient underwent an endoscopic examination of the entire gastrointestinal tract. She was also diagnosed as having Cowden syndrome based on gastrointestinal polyps and skin, thyroid and breast lesions. Cowden syndrome is associated with germline mutations in the tumorsuppressor gene PTEN. PTEN expression may be essential to tumor growth and is a predictive biomarker of the prognosis of both diseases. The present report of such a case is expected to further the analysis of Cowden syndrome.
authors.affiliation: Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Masanao
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Hirooka
authors.forename: Takeshi
authors.initials: T
authors.lastname: Yamamura
authors.forename: Koji
authors.initials: K
authors.lastname: Yamada
authors.forename: Asuka
authors.initials: A
authors.lastname: Nagura
authors.forename: Toru
authors.initials: T
authors.lastname: Yoshimura
authors.forename: Naoki
authors.initials: N
authors.lastname: Ohmiya
authors.forename: Keisuke
authors.initials: K
authors.lastname: Uehara
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Yoshioka
authors.forename: Masato
authors.initials: M
authors.lastname: Nagino
authors.forename: Hidemi
authors.initials: H
authors.lastname: Goto
mesh_terms: D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000150:complications* / Q000175:diagnosis; D046152:Gastrointestinal Stromal Tumors / Q000150:complications* / Q000175:diagnosis; D006223:Hamartoma Syndrome, Multiple / Q000150:complications*; D006801:Humans; D007413:Intestinal Mucosa / Q000473:pathology; D014057:Tomography, X-Ray Computed
keywords: Cowden syndrome; PTEN; gastrointestinal stromal tumor (GIST); hamartoma; small bowel