胃肠道恶性神经外胚层肿瘤临床病理剖析及文献复习.docVIP

胃肠道恶性神经外胚层肿瘤临床病理剖析及文献复习 　　[摘要]目的 探讨胃肠道恶性神经外胚层肿瘤的临床病理特征、免疫表型、分子遗传学及鉴别诊断。方法 对本院2015年12月收治的1例罕见的胃肠道恶性神经外胚层肿瘤进行分析并复习相关文献，观察其组织学形态及免疫组化标记结果，并采用FISH检测EWSR1基因融合情况。结果 肿瘤位于小肠，呈浸润性生长，浸润小肠壁全层，肿瘤细胞圆形，短梭形，上皮样，排列成片状，巢状，并可见散在破骨细胞样多核巨细胞。核泡状，核仁明显，核分裂象易见，胞浆丰富，嗜酸性。免疫组化显示，肿瘤细胞S-100和Vimentin弥漫强阳性，CD99、CD56和Syn部分肿瘤细胞阳性，CR少许肿瘤弱阳性，Ki-67约30%阳性。荧光原位杂交结果显示EWSR1基因重排。结论 胃肠道恶性神经外胚层肿瘤是一种特殊并罕见类型肿瘤，具有高度侵袭性，预后差。对该肿瘤的确诊需依靠组织学形态和免疫组化，需与其他恶性肿瘤进行鉴别。EWSR1融合基因检测有助于确诊及鉴别诊断。 　　[关键词]恶性神经外胚层肿瘤；免疫表型；分子遗传学 　　[中图分类号] R735 [文献标识码] A [文章编号] 1674-4721（2016）10（a）-0008-05 　　[Abstract]Objective To investigate clinicopathological features，immunophenotype，molecular genetics and differential diagnosis of malignant gastrointestinal neuroectodermal tumor.Methods A case of rare malignant gastrointestinal neuroectodermal tumor in December 2015 in our hospital was analyzed and reviewed the related literature.The histological and immunohistochemical results were observed，and the fusion status of EWSR1 gene was detected by fluorescence in situ hybridization （FISH）.Results The tumor was located in the small intestine，the poor-circumscribed lesion located in the entire thickness of the bowel wall extending into the mucosal layer with a significant infiltrative growth patterns.The tumors cells composed of round，short spindle or round epithelium-like cells arranged in sheets or nests.A number of multinucleated osteoclast-like giant cells had also been observed.The nuclei that was surrounded by variable amounts of eosinophilic cytoplasm showed vesicular chromatin with generally distinct to nucleoli and variable mitotic activity were easy to seen.The tumor cells were strongly positive for S-100 and Vimentin，and positive for CD99，CD56 and Syn，and weak positive for CR，the Ki-67 proliferating index was about 30% in the aspect of immunohistochemistry.Fluorescence in situ hybridization results showed EWSR1 gene rearrangement.Conclusion Malignant gastrointestinal neuroectodermal tumor is an additionally rare tumor with high aggressive