Sasaki Makiko, Tanaka Mamoru, Asukai Koki, Koguchi Hiroki, Inoue Yusuke, Moriyama Mizuki, Tsukahara Tetsuo, Kawahara Takeo, Hayashi Eiji, Hattori Yukinori, Hasegawa Izumi, Kataoka Hiromi
Department of Gastroenterology Japan Community Health Care Organization Chukyo Hospital Aichi Japan.
Department of Gastroenterology and Metabolism Nagoya City University Graduate School of Medical Science Aichi Japan.
DEN Open. 2022 Apr 10;2(1):e119. doi: 10.1002/deo2.119. eCollection 2022 Apr.
Malignant gastrointestinal neuroectodermal tumors (GNETs) are rare malignant mesenchymal neoplasms. To our knowledge, only 99 cases have been reported worldwide. The tumor has an aggressive malignancy, with a rapid progression. The histological features of GNET overlap with those of clear cell sarcoma, which contain Ewing sarcoma breakpoint region 1 mutation. GNETs lack melanocyte-specific markers, while clear cell sarcoma exhibits melanocytic differentiation. Various symptoms have been reported previously, and the most reported lesion is in the small bowel. The patient was a 69-year-old man who presented with abdominal pain and vomiting. Computed tomography revealed a nodule in the small bowel, which induced small intestinal obstruction. Enteroscopic images revealed a submucosal tumor. Surgery was performed, and the patient was diagnosed with GNET. Only two patients whose primary lesions were in the small intestine, including the patient in this report, have undergone enteroscopy before surgery. This is a rare case of GNET in which a patient underwent enteroscopy before surgical treatment.
恶性胃肠道神经外胚层肿瘤（GNETs）是罕见的恶性间叶性肿瘤。据我们所知，全球仅报道了99例。该肿瘤具有侵袭性恶性，进展迅速。GNET的组织学特征与包含尤文肉瘤断点区域1突变的透明细胞肉瘤的特征重叠。GNET缺乏黑素细胞特异性标志物，而透明细胞肉瘤表现出黑素细胞分化。先前已报道了各种症状，最常报道的病变部位在小肠。该患者为一名69岁男性，表现为腹痛和呕吐。计算机断层扫描显示小肠有一个结节，导致小肠梗阻。肠镜图像显示为黏膜下肿瘤。进行了手术，患者被诊断为GNET。包括本报告中的患者在内，仅有两名原发性病变位于小肠的患者在手术前接受了肠镜检查。这是一例罕见的GNET病例，患者在手术治疗前接受了肠镜检查。
