Case Report
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World J Gastroenterol. Dec 21, 2013; 19(47): 9133-9136
Published online Dec 21, 2013. doi: 10.3748/wjg.v19.i47.9133
DOG1 is useful for diagnosis of KIT-negative gastrointestinal stromal tumor of stomach
Takuya Wada, Satoshi Tanabe, Kenji Ishido, Katsuhiko Higuchi, Tohru Sasaki, Chikatoshi Katada, Mizutomo Azuma, Akira Naruke, Myunguchul Kim, Wasaburo Koizumi, Tetsuo Mikami
Takuya Wada, Satoshi Tanabe, Kenji Ishido, Katsuhiko Higuchi, Tohru Sasaki, Chikatoshi Katada, Mizutomo Azuma, Akira Naruke, Myunguchul Kim, Wasaburo Koizumi, Department of Gastroenterology, Kitasato University East Hospital, Kanagawa 252-0380, Japan
Tetsuo Mikami, Department of Pathology, Kitasato University East Hospital, Kanagawa 252-0380, Japan
Author contributions: Wada T, Tanabe S and Ishido K designed and wrote the paper; Higuchi K, Sasaki T, Katada C, Azuma M, Naruke A, Kim M and Koizumi W performed the image diagnosis; Mikami T performed the pathological examinations.
Correspondence to: Kenji Ishido, MD, Department of Gastroenterology, Kitasato University East Hospital, 2-1-1 Asamizodai, Minami-ku, Sagamihara, Kanagawa 252-0380, Japan. k.ishido@kitasato-u.ac.jp
Telephone: +81-42-7489111 Fax: +81-42-7498690
Received: June 7, 2013
Revised: September 24, 2013
Accepted: October 19, 2013
Published online: December 21, 2013
Processing time: 226 Days and 21.2 Hours
Abstract

Approximately 80%-95% of gastrointestinal stromal tumors (GISTs) show positive staining for KIT, while the other 5%-20% show negative staining. If the tumor is negative for KIT, but is positive for CD34, a histological diagnosis is possible. However, if the tumor is negative for KIT, CD34, S-100, and SMA, a definitive diagnosis is often challenging. Recently, Discovered on GIST-1 (DOG1) has received considerable attention as a useful molecule for the diagnosis of GIST. DOG1, a membrane channel protein, is known to be overexpressed in GIST. Because the sensitivity and specificity of DOG1 are higher than those of KIT, positive staining for DOG1 has been reported, even in KIT-negative GISTs. KIT-negative GISTs most commonly arise in the stomach and are mainly characterized by epithelioid features histologically. We describe our experience with a rare case of a KIT-negative GIST of the stomach that was diagnosed by positive immunohistochemical staining for DOG1 in a patient who presented with severe anemia. Our findings suggest that immunohistochemical staining for DOG1, in addition to gene analysis, is useful for the diagnosis of KIT-negative tumors that are suspected to be GISTs.

Keywords: KIT negative; Gastrointestinal stromal tumors; Discovered on gastrointestinal stromal tumor-1; Platelet-derived growth factor receptor alpha

Core tip: We describe our experience with a rare case of a KIT-negative gastrointestinal stromal tumor (GIST) of the stomach that was diagnosed by positive immunohistochemical staining for Discovered on GIST-1 (DOG1) in a patient who presented with severe anemia. Our findings suggest that immunohistochemical staining for DOG1, in addition to gene analysis, is useful for the diagnosis of KIT-negative tumors that are suspected to be GISTs.