Naoe Hideaki, Kaku Eisuke, Ido Yumi, Gushima Rika, Maki Yoko, Saito Hirokazu, Yokote Seiichiro, Gushima Ryosuke, Nonaka Kouichi, Hoshida Yohmei, Murao Tetsuya, Ozaki Tetsu, Yokomine Kazunori, Tanaka Hideki, Nagahama Hiroyasu, Sakurai Kouichi, Tanaka Motohiko, Iyama Ken-Ichi, Baba Hideo, Sasaki Yutaka
Departments of Gastroenterology and Hepatology, Kumamoto University, Kumamoto, Japan.
Case Rep Gastroenterol. 2011 Sep;5(3):583-9. doi: 10.1159/000333403. Epub 2011 Oct 4.
Metastasis of gastrointestinal stromal tumor (GIST) into the central nervous system is extremely rare. We report a patient with synchronous GIST and brain metastasis. At disease onset, there was left hemiplegia and ptosis of the right eyelids. Resection cytology of the brain tumor was reported as metastasis of GIST. After positron emission tomography examination, another tumor in the small bowel was discovered, which suggested a small bowel GIST associated with intracranial metastasis. Immunohistochemical analysis of the intestinal tumor specimen obtained by double balloon endoscopy showed a pattern similar to the brain tumor, with the tumors subsequently identified as intracranial metastases of jejunal GIST. After surgical resection of one brain tumor, the patient underwent whole brain radiation therapy followed by treatment with imatinib mesylate (Gleevec; Novartis Pharma, Basel, Switzerland). Mutational analysis of the original intestinal tumor revealed there were no gene alterations in KIT or PDGFRα. Since the results indicated the treatment had no apparent effect on either of the tumors, and because ileus developed due to an intestinal primary tumor, the patient underwent surgical resection of the intestinal lesion. However, the patient's condition gradually worsen and she subsequently died 4 months after the initial treatment.
胃肠道间质瘤（GIST）转移至中枢神经系统极为罕见。我们报告一例同时患有GIST和脑转移的患者。疾病发作时，患者出现左侧偏瘫及右侧眼睑下垂。脑肿瘤切除细胞学检查报告为GIST转移。正电子发射断层扫描检查后，发现小肠有另一肿瘤，提示为伴有颅内转移的小肠GIST。通过双气囊内镜获取的肠道肿瘤标本的免疫组织化学分析显示与脑肿瘤有相似模式，随后这些肿瘤被确定为空肠GIST的颅内转移灶。手术切除一个脑肿瘤后，患者接受了全脑放射治疗，随后用甲磺酸伊马替尼（格列卫；瑞士巴塞尔诺华制药公司）治疗。对原始肠道肿瘤的突变分析显示KIT或PDGFRα无基因改变。由于结果表明治疗对任何一个肿瘤均无明显效果，且因肠道原发性肿瘤导致肠梗阻，患者接受了肠道病变的手术切除。然而，患者病情逐渐恶化，在初始治疗4个月后死亡。
