Huang J, Yang T T, Jiang Z M, Zhang H Z
Department of Pathology, Shanghai Sixth People's Hospital, Affiliated to Shanghai Jiaotong University, Shanghai 200233, China.
Zhonghua Bing Li Xue Za Zhi. 2021 Mar 8;50(3):201-206. doi: 10.3760/cma.j.cn112151-20201202-00891.
To investigate the clinicopathological features, diagnosis and differential diagnosis of notochordal tumors. The clinical, radiologic and pathologic data of 48 notochordal tumors were collected from 2008 to 2019 at Shanghai Jiaotong University Sixth People's Hospital. Expression of cytokertin, S-100 protein, vimentin, brachyury and INI1 was detected by immunohistochemistry. The pathologic differential diagnoses and biologic behavior of various types of notochordal tumors were analyzed using the new standard in the 5th edition of WHO tumor classification. Four cases of benign notochordal cell tumor were confined to vertebral body. Histopathologically, they lacked lobular architecture and extracellular myxoid matrix. The tumor cells were vacuolated and had centrally or peripherally located round to oval nuclei, with small nucleoli, without atypia, mimicking mature adipocytes. No mitotic figures were seen. Two cases of poorly differentiated chordoma, from patients aged 12 years and 21 years respectively, were located in cervical vertebra, and were composed of cohesive sheets or nests of epithelioid cells, with focal rhabdoid morphology. There was relatively abundant eosinophilic cytoplasm and scattered cytoplasmic vacuoles. The moderately pleomorphic nuclei were round to ovoid with vesicular chromatin and mitotic figures could be seen. Extracellular myxoid stroma was observed focally. Forty cases of conventional chordoma and two cases of extra-axis chordoma had similar histologic features. All 48 cases expressed cytokeretin, 45 cases expressed brachyury, and two poorly differentiated tumors showed loss of INI1/SMARCB1. There are four subtypes of chordomas: conventional, dedifferentiated, poorly differentiated and extra-axis. Chondroid chordoma is no longer thought to be a distinct entity. Each type has its unique clinicopathological characteristics. Brachyury is highly specific and sensitive for the diagnosis of various notochordal tumors. Poorly differentiated chordoma shows distinct clinicopathological features, including young age and loss of immunohistochemical expression of INI1/SMARCB1, and its diagnosis requires the combined detection of brachyury and INI1/SMARCB1.
探讨脊索瘤的临床病理特征、诊断及鉴别诊断。收集2008年至2019年上海交通大学附属第六人民医院48例脊索瘤的临床、影像学及病理资料。采用免疫组织化学法检测细胞角蛋白、S-100蛋白、波形蛋白、brachyury及INI1的表达。参照世界卫生组织肿瘤分类第5版新标准分析各型脊索瘤的病理鉴别诊断及生物学行为。4例良性脊索细胞瘤局限于椎体。组织病理学上，它们缺乏小叶结构和细胞外黏液样基质。肿瘤细胞呈空泡状，细胞核圆形至椭圆形，位于中央或周边，核仁小，无异型性，类似成熟脂肪细胞。未见核分裂象。2例低分化脊索瘤，患者分别为12岁和21岁，位于颈椎，由上皮样细胞的紧密片层或巢状结构组成，有局灶性横纹肌样形态。嗜酸性细胞质相对丰富，有散在的细胞质空泡。核中度多形性，圆形至卵圆形，染色质呈泡状，可见核分裂象。局灶性观察到细胞外黏液样基质。40例经典型脊索瘤和2例轴外脊索瘤具有相似的组织学特征。48例均表达细胞角蛋白，45例表达brachyury，2例低分化肿瘤显示INI1/SMARCB1缺失。脊索瘤有四种亚型：经典型、去分化型、低分化型和轴外型。软骨样脊索瘤不再被认为是一个独立的实体。各型具有独特的临床病理特征。Brachyury对各种脊索瘤的诊断具有高度特异性和敏感性。低分化脊索瘤具有独特的临床病理特征，包括发病年龄轻和INI1/SMARCB1免疫组化表达缺失，其诊断需要联合检测brachyury和INI1/SMARCB1。
