Multiple gastrointestinal stromal tumors caused by a novel germline KIT gene mutation (Asp820Gly): a case report and lit
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CASE REPORT
Multiple gastrointestinal stromal tumors caused by a novel germline KIT gene mutation (Asp820Gly): a case report and literature review Jun Arima1 · Masako Hiramatsu1 · Kohei Taniguchi2,3 · Toshihiro Kobayashi1 · Ichiro Tsunematsu1 · Shuji Kagota1 · Junna Sakane1 · Yusuke Suzuki1 · Seiichi Hirota4 Received: 29 December 2019 / Accepted: 21 February 2020 © The International Gastric Cancer Association and The Japanese Gastric Cancer Association 2020
Abstract Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract; most of them have gain-of-function mutations of the KIT gene. There have been rare cases of families with multiple GISTs, that had autosomal dominant germline KIT mutations. Here, we present a case of multiple GISTs caused by a novel germline KIT mutation. Intraoperatively, the main tumor was present in the body of the stomach, and multiple small nodules were detected mainly in the upper and middle part of the gastric wall; several nodules were also present in the small bowel wall. The main tumor and surrounding nodules were resected. DNA sequencing of the tumor tissue, adjacent normal mucosal tissue, and peripheral blood leukocytes revealed that the patient had germline Asp820Gly mutation in exon 17 of the KIT gene. This is the first case with germline Asp820Gly mutation in exon 17 of the KIT gene. Keywords Gastrointestinal stromal tumor · GIST · Exon 17
Introduction Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract [1]. GISTs are derived from the interstitial cells of Cajal (ICCs) or their precursors owing to gain-of-function mutations in either the KIT gene that encodes the KIT receptor tyrosine kinase (CD117), or the platelet-derived growth factor receptor alpha gene [2]. Most GISTs are sporadic, and often have mutations in exons 11 or 9 of the KIT gene. In contrast, familial and multiple GISTs with germline KIT mutations occur as a rare autosomal dominant disorder. Approximately * Masako Hiramatsu sur057@osaka‑med.ac.jp 1
Takatsuki Red Cross Hospital, 1‑1‑1 Abuno, Takatsuki, Osaka 569‑1096, Japan
2
Department of General and Gastroenterological Surgery, Osaka Medical College, 2‑7 Daigaku‑machi, Takatsuki, Osaka 569‑8686, Japan
3
Translational Research Program, Osaka Medical College, 2‑7 Daigaku‑machi, Takatsuki, Osaka 569‑8686, Japan
4
Department of Surgical Pathology, Hyogo College of Medicine, 1‑1 Mukogawa‑cho, Nishinomiya, Hyogo 663‑8501, Japan
40 cases of familial GIST have been reported to date [3]. Mutations in exon 11 of the KIT gene were detected in 25 families, while mutations in exon 17 were detected in only four families. The previously observed mutations in exon 17 are Asp820Tyr and Asn822Tyr [4–7]. Herein, we present the case of a patient with multiple GISTs with a novel germline KIT gene mutation (Asp820Gly) in exon 17.
Case presentation In 2009, a 73-year-old female patient was admitted to the Department of Gastrointestinal Medicine at our hospita
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