Huang H J, He Y H, Fan D G, Chen X Y
Department of Pathology, Fujian Provincial Hospital, Provincial Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.
Department of Pathology, the Second Affiliated Hospital of Fujian Medical University, Fujian Province, Quanzhou 362000, China.
Zhonghua Bing Li Xue Za Zhi. 2020 Aug 8;49(8):821-826. doi: 10.3760/cma.j.cn112151-20191204-00780.
To investigate the clinicopathological features, diagnosis, differential diagnosis, and molecular alterations of malignant gastrointestinal neuroectodermal tumor (MGNET). Four cases of MGNET were collected at Fujian Provincial Hospital, from July 2013 to January 2019. H&E and immunohistochemical staining were retrospectively evaluated, together with genetic mutation analysis of EWSR1. The relevant literature was systematically reviewed. There were two male and two female patients, with an age range of 34-81 (median 57) years. Tumor sizes ranged from 5-9 (median 6.8) cm. Microscopy showed diffuse and flaky growth of tumor cells, some of which were small and round. The tumor cells were arranged in solid, flaky, nested or pseudoadenoid patterns. The tumor cells were epithelioid, oval, short spindled, or small, with round or oval nuclei. The cytoplasm was eosinophilic or clear. Osteoclast-like multinucleated giant cells were scattered focally. Mitosis was about (2-10)/10 HPF. Immunohistochemically, the tumor cells were positive for S-100 protein (4/4), SOX10 (4/4), Syn (2/4), INI1 (4/4), H3K27Me3 (4/4) and vimentin (4/4). Ki-67 index was 15%-90%. Gene mutation detection confirmed EWSR1 mutation in all four cases, and C-KIT/PDGFRα genes were not mutated in two cases. MGNET is a rare high grade malignant soft tissue tumor. The diagnosis is based on clinicopathological, immunophenotypic, and molecular pathology features. The primary treatment for MGNET is complete surgical excision and chemotherapy; the prognosis is poor.
探讨恶性胃肠道神经外胚层肿瘤（MGNET）的临床病理特征、诊断、鉴别诊断及分子改变。收集2013年7月至2019年1月在福建省立医院确诊的4例MGNET病例。对其进行苏木精-伊红（H&E）染色及免疫组化染色，并进行EWSR1基因突变分析，同时系统回顾相关文献。4例患者中男性2例，女性2例，年龄34 - 81岁（中位年龄57岁）。肿瘤大小为5 - 9 cm（中位大小6.8 cm）。显微镜下可见肿瘤细胞呈弥漫性片状生长，部分细胞小而圆。肿瘤细胞呈实性、片状、巢状或假腺管状排列。肿瘤细胞呈上皮样、椭圆形、短梭形或小圆形，核圆形或椭圆形。细胞质嗜酸性或透明。可见散在的破骨细胞样多核巨细胞。核分裂象约为（2 - 10）/10高倍视野（HPF）。免疫组化结果显示，肿瘤细胞S-100蛋白（4/4）、SOX10（4/4）、突触素（Syn，2/4）、INI1（4/4）、H3K27Me3（4/4）及波形蛋白（vimentin，4/4）均呈阳性。Ki-67指数为15% - 90%。基因突变检测证实4例均存在EWSR1基因突变，2例C-KIT/PDGFRα基因未发生突变。MGNET是一种罕见的高级别恶性软组织肿瘤。其诊断基于临床病理、免疫表型及分子病理特征。MGNET的主要治疗方法为手术完整切除及化疗；预后较差。
