Boșoteanu Mădălina, Cristian Miruna, Așchie Mariana, Baz Radu Andrei, Zielonka Alina Marta, Cozaru Georgeta Camelia, Boșoteanu Luana Andreea
Faculty of Medicine, "Ovidius" University of Constanta, 900470 Constanta, Romania.
Department of Clinical Pathology, "Sf. Apostol Andrei" Emergency County Hospital, 900591 Constanta, Romania.
Diagnostics (Basel). 2023 Mar 16;13(6):1131. doi: 10.3390/diagnostics13061131.
(1) Background: A malignant gastrointestinal neuroectodermal tumor (GNET) is an ultra-rare primary neoplasm with a distinctive histopathological, immunohistochemical, molecular, and ultramicroscopic profile, synonymous terminology with clear cell sarcoma-like tumor of the gastrointestinal tract. This case report aims to describe a case of GNET with challenging mesenchymal, lymphoid, and melanic tumor differential diagnosis. (2) Case presentation: We discuss the case of a 67-year-old male patient who presented with diffuse abdominal pain, intermittent lack of intestinal transit, and frequent episodes of nausea, followed by segmental resection of the jejunum and sigmoid colon. The patient had no relevant medical history. The surgical specimen underwent immunohistochemical staining and morphological evaluation. (3) Results: Histopathological analysis reveals a moderately homogeneous polyhedral-epithelioid and spindle cell neoplastic proliferation with a zonal discohesive pattern and extensive and focal fasciculated architecture. Twenty monoclonal antibodies were used for immunostaining, which allowed GNET to be diagnosed on the basis of the tumoral immune profile, characterized by positive reactivity of S100, SOX10, and CD 56. (4) Conclusions: The poor prognosis of GNET is highlighted in the present study, along with the vital importance of differential diagnosis issues with mesenchymal, lymphoid, and melanic tumors, which make the diagnosis difficult for both pathologists and clinicians.
(1) 背景:恶性胃肠道神经外胚层肿瘤(GNET)是一种极为罕见的原发性肿瘤,具有独特的组织病理学、免疫组织化学、分子和超微结构特征,与胃肠道透明细胞肉瘤样肿瘤同义。本病例报告旨在描述一例具有挑战性的GNET病例,其鉴别诊断涉及间叶性、淋巴性和黑色素性肿瘤。(2) 病例介绍:我们讨论了一名67岁男性患者的病例,该患者表现为弥漫性腹痛、间歇性肠梗阻和频繁恶心发作,随后接受了空肠和乙状结肠节段性切除。患者无相关病史。手术标本进行了免疫组织化学染色和形态学评估。(3) 结果:组织病理学分析显示,肿瘤呈中度均匀的多面体上皮样和梭形细胞增生,具有带状分离模式和广泛及局灶性束状结构。使用了20种单克隆抗体进行免疫染色,根据肿瘤的免疫表型诊断为GNET,其特征为S100、SOX10和CD 56呈阳性反应。(4) 结论:本研究强调了GNET预后不良,以及与间叶性、淋巴性和黑色素性肿瘤鉴别诊断问题的至关重要性,这使得病理学家和临床医生的诊断都很困难。