PDF(Pubmed)
Abstract：
Malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare soft tissue sarcoma and has been designated as a new entity recently. At present, GNET virtually exclusively occurs in the gastrointestinal tract. Here we report a case of extra-GNET that arose in the right heart. A 62-year-old male complained of chest distress and breathing difficulty while lying down at night for over 1 month at admission. The radiological findings revealed an occupying lesion involving the right atrium and the right ventricle without any abdominal abnormalities. The patient then underwent a surgical resection. Microscopically, neoplastic cells proliferated in the pattern of nests and sheets with fibrous separation. Focal areas with cellular dyscohesion imparted a vague pseudopapillary pattern. These tumor cells were small to medium in size with fine chromatin and predominantly pale eosinophilic cytoplasm. The nuclei were typically round to oval with somewhat irregular contours and contained small nucleoli. The mitotic figures were easily found. Immunohistochemically, the neoplastic cells were positive for S100 and SOX-10 but negative for HMB-45, A103, and CD99. EWSR1-AFTF1 rearrangement was detected by fluorescence in situ hybridization and further confirmed by whole-transcriptome sequence analysis. The patient had pulmonary metastasis 8 months later and soon died of the disease. The overall survival of the patient was 20 months. In summary, we reported an extremely rare case of cardiac GNET, indicating that the location of GNET should not be confined to the GI tract as initially defined. Due to the lack of a specific effective treatment and the occurrence of early metastasis, cardiac GNET conferred a poor prognosis. More clinical and experimental studies are warranted to better manage this disease in the future.
摘要：
恶性胃肠神经外胚层肿瘤(GNET)是一种极为罕见的软组织肉瘤,最近被指定为一种新实体。目前,GNET实际上仅发生在胃肠道中。在这里，我们报告了右心出现的GNET外的病例。一名62岁的男性在入院时晚上躺下超过1个月时抱怨胸闷和呼吸困难。放射学发现显示累及右心房和右心室的占位病变，无任何腹部异常。然后患者接受了手术切除。微观上,肿瘤细胞以巢和薄片的形式增殖，并伴有纤维分离。具有细胞内聚失调的局灶性区域赋予了模糊的假乳头模式。这些肿瘤细胞大小小至中等，染色质细，主要是苍白的嗜酸性细胞。细胞核通常为圆形到椭圆形，轮廓有些不规则，并且包含小的核仁。很容易发现有丝分裂图。免疫组织化学，肿瘤细胞S100和SOX-10阳性,但HMB-45,A103和CD99阴性.通过荧光原位杂交检测EWSR1-AFTF1重排，并通过全转录组序列分析进一步证实。8个月后患者出现肺转移，很快死亡。患者的总生存期为20个月。总之,我们报道了一例极为罕见的心脏GNET病例,表明GNET的位置不应局限于最初定义的胃肠道。由于缺乏特异性有效的治疗方法和早期转移的发生,心脏GNET预后不良。将来有必要进行更多的临床和实验研究以更好地控制这种疾病。
