Primary gastrointestinal stromal tumor of the liver with PDGFRA gene mutation

Yamamoto, Hidetaka; Miyamoto, Yuichi; Nishihara, Yunosuke; Kojima, Aya; Imamura, Masakazu; Kishikawa, Keiji; Takase, Yukari; Ario, Keisuke; Oda, Yoshinao; Tsuneyoshi, Masazumi

doi:10.1016/j.humpath.2009.09.016

« Previous Next »Human Pathology
Volume 41, Issue 4 , Pages 605-609, April 2010

Primary gastrointestinal stromal tumor of the liver with PDGFRA gene mutation

Hidetaka Yamamoto, MD
- Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
- Corresponding author.
Yuichi Miyamoto, MD
- Department of Pathology, Shiroishi Kyoritu Hospital, Saga 849-1112, Japan
Yunosuke Nishihara, MD
- Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Aya Kojima, MD
- Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Masakazu Imamura, MD
- Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Keiji Kishikawa, MD
- Department of Surgery, Shiroishi Kyoritu Hospital, Saga 849-1112, Japan
Yukari Takase, MD
- Department of Pathology, Faculty of Medicine, Saga University, Saga 849-8501, Japan
Keisuke Ario, MD
- Department of Internal Medicine, Faculty of Medicine, Saga University, Saga 849-8501, Japan
Yoshinao Oda, MD
- Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan
Masazumi Tsuneyoshi, MD
- Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan

Received 22 April 2009; received in revised form 14 September 2009; accepted 15 September 2009. published online 22 January 2010.

Summary

Gastrointestinal stromal tumor is a mesenchymal tumor with KIT or PDGFRA gene mutation, occurring primarily in the stomach and intestine and rarely outside the digestive tract. KIT-negative tumors with epithelioid cell morphology and PDGFRA mutation represent a minor subset of gastrointestinal stromal tumor. Here, we describe a case of gastrointestinal stromal tumor in the liver of a 70-year-old man. The tumor was shown to be completely limited within the liver by radiologic, intraoperative, and pathologic examinations. Histopathologically, the tumor showed epithelioid cell-type morphology and immunohistochemical expression of CD34 and protein kinase C θ but was negative for cytokeratin, EMA, S-100, and HMB-45. KIT protein expression was very faint, and we judged it as negative. Mutation analysis revealed the presence of PDGFRA gene mutation (V561D) at exon 12. These findings are essentially the same as those typically seen in ordinary KIT-negative epithelioid cell-type gastrointestinal stromal tumor of the digestive tract. Although KIT-negative gastrointestinal stromal tumor occurring outside the gastrointestinal tract is very rare, this entity should be considered as a potential primary hepatic neoplasm.

Keywords: Gastrointestinal stromal tumor, Liver, Primary, PKCθ, PDGFRA