恶性胃肠道神经外胚层肿瘤(GNETs)是罕见的侵袭性恶性肿瘤,仅发生在胃肠道壁内。2003年,GNET首次被描述为胃肠道富含破骨细胞的肿瘤,其特征类似于软组织的透明细胞肉瘤(CCS)。尽管GNET与CCS具有某些组织学特征,它的特征是缺乏黑素细胞分化和存在非肿瘤破骨细胞样巨细胞(OLGC)。本研究报告一例回肠GNET伴腹内肉芽肿结节,一个罕见的伴随发现,并对目前的文献进行了总结。一名30岁的女性出现肠梗阻症状,在回肠壁内发现了一个肿块。发现多个灰白色结节粘附在回肠的网膜和浆膜上。组织学上,肿瘤位于固有肌层,浸润粘膜和浆膜。肿瘤细胞呈现卵圆形或多边形细胞核和突出的核仁,主要排列成巢状和假乳头状,存在分化簇(CD)68阳性,分散的OLGC。免疫组织化学,确定肿瘤细胞表达波形蛋白,CD56,S-100和转录因子SOX-10,虽然对泛细胞角蛋白呈阴性,细胞角蛋白(CK)7,CK20,突触素,嗜铬粒蛋白A,CD117,anocamin-1,CD34,人黑素瘤黑-45,Melan-A,平滑肌肌动蛋白,CD3和CD20表达。通过荧光原位杂交分析鉴定了尤文肉瘤断点区域1基因重排。超微结构,没有发现典型的黑色素体。此外,在显微镜下将腹内灰白色结节鉴定为慢性肉芽肿性炎症.患者在常规肿瘤切除后接受了四个周期的辅助化疗。由于其罕见性和与其他肿瘤的组织学相似性,外科病理学家对GNETs的特征不熟悉很容易导致误诊。因此,全面评估,包括形态学和辅助研究,需要准确诊断GNET。
Malignant gastrointestinal neuroectodermal tumors (GNETs) are rare aggressive malignant neoplasms that exclusively occur within the wall of the gastrointestinal tract. The GNET was first described as an \'osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma (CCS) of soft parts\' in 2003. Although the GNET shares certain histological features with CCS, it is characterized by a lack of melanocytic differentiation and the presence of non-tumoral osteoclast-like giant cells (OLGCs). The present study reports a case of a GNET of the ileum with intra-abdominal granulomatous nodules, an uncommon accompanying finding, and summarizes the current literature. A 30-year-old woman presented with the symptoms of intestinal obstruction, and a mass was found within the ileum wall. Multiple grey-white nodules were found adhering to the omentum and serosa of the ileum. Histologically, the tumor was located in the muscularis propria and infiltrated the mucosa and the serosa. Tumor cells presented with oval or polygonal nuclei and prominent nucleoli, and were predominantly arranged in nested and pseudopapillary patterns, with the presence of cluster of differentiation (CD)68-positive, scattered OLGC. Immunohistochemically, it was determined that the tumor cells expressed Vimentin, CD56, S-100 and transcription factor SOX-10, while being negative for pan-cytokeratin, cytokeratin (CK)7, CK20, synaptophysin, chromogranin-A, CD117, anoctamin-1, CD34, human melanoma black-45, Melan-A, smooth muscle actin, CD3 and CD20 expression. Ewing sarcoma breakpoint region 1 gene rearrangement was identified by fluorescence in situ hybridization analysis. Ultrastructurally, no typical melanosomes were identified. In addition, the intra-abdominal grey-white nodules were microscopically identified as chronic granulomatous inflammation. The patient received four cycles of adjuvant chemotherapy following routine tumor resection. Due to its rarity and histological similarity with other neoplasms, unfamiliarity with the features of GNETs by surgical pathologists can easily lead to a misdiagnosis. Therefore, comprehensive assessments, including morphology and ancillary studies, are required for an accurate diagnosis of GNET.