Cowden syndrome complicated by a gastrointestinal stromal tumor

Masanao Nakamura; Yoshiki Hirooka; Takeshi Yamamura; Koji Yamada; Asuka Nagura; Toru Yoshimura; Naoki Ohmiya; Keisuke Uehara; Yuichiro Yoshioka; Masato Nagino; Hidemi Goto

doi:10.1111/den.12167

Cowden syndrome complicated by a gastrointestinal stromal tumor

Masanao Nakamura, Yoshiki Hirooka, Takeshi Yamamura, Koji Yamada, Asuka Nagura, Toru Yoshimura, Naoki Ohmiya, Keisuke Uehara, Yuichiro Yoshioka, Masato Nagino, Hidemi Goto

Department of Advanced Endoscopy

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Pages (from-to)	673-675
Number of pages	3
Journal	Digestive Endoscopy
Volume	26
Issue number	5
DOIs	https://doi.org/10.1111/den.12167
Publication status	Published - 01-09-2014

All Science Journal Classification (ASJC) codes

Radiology Nuclear Medicine and imaging
Gastroenterology

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10.1111/den.12167

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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.",

author = "Masanao Nakamura and Yoshiki Hirooka and Takeshi Yamamura and Koji Yamada and Asuka Nagura and Toru Yoshimura and Naoki Ohmiya and Keisuke Uehara and Yuichiro Yoshioka and Masato Nagino and Hidemi Goto",

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AU - Nakamura, Masanao

AU - Hirooka, Yoshiki

AU - Yamamura, Takeshi

AU - Yamada, Koji

AU - Nagura, Asuka

AU - Yoshimura, Toru

AU - Ohmiya, Naoki

AU - Uehara, Keisuke

AU - Yoshioka, Yuichiro

AU - Nagino, Masato

AU - Goto, Hidemi

PY - 2014/9/1

Y1 - 2014/9/1

N2 - 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.

AB - 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.

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Cowden syndrome complicated by a gastrointestinal stromal tumor

Abstract

All Science Journal Classification (ASJC) codes

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