儿童非典型畸胎样/横纹肌样瘤临床病理分析

目的探讨儿童非典型畸胎样/横纹肌样瘤（AT/RT）的临床病理特征、免疫组化表型、诊断及鉴别诊断。方法分析AT/RT患者临床表现、病理形态和免疫组化染色特征。结果男2例,女2例,年龄3～15岁,平均年龄6.7岁;影像学检查肿瘤均位于幕上,其中1例位于脑室内。组织学上,肿瘤由横纹肌样细胞及肿瘤间叶组织和（或）原始神经外胚层成分构成,未见类似上皮样组织分化。免疫组化染色示波形蛋白、上皮细胞膜抗原、S-100、神经元特异性烯醇化酶和突触素阳性,且所有病例均显示INI1蛋白表达缺失。结论 AT/RT是好发于儿童的罕见的高度恶性胚胎性肿瘤,其形态及免疫组化表型多样,需与多种肿瘤相鉴别。免疫组化检测INI1表达失活为诊断该病的敏感性及特异性指标。

Clinicopathological analysis of atypical teratoid tumor /rhabdoid tumor in children

Objective To investigate the clinicopathologic features,immunohistochemical stain,diagnosis and differential diagnosis of atypical teratoid/rhabdoid tumor （AT/RT） in children. Methods To analyze the clinical manifestations, pathological and immunohistochemical staining characteristics of children with AT/RT. Results 2 males and 2 females,aged 3 to 15 years,mean age 6.7 years; imaging tumors were located on the screen,including 1case in intraventricular. Histologically, the tumor was composed of rhabdoid tumor cells and mesenchymal tissue and （or） primitive neuroectodermal composition,no similar epithelial tissue differentiation. Immunohistochemical staining showed vimentin,epithelial membrane antigen,S-100, neuron-specific enolase and synaptophysin positive,and in all cases show INI 1 protein expression deletion. Conclusion AT / RT is rarely highly malignant embryonal tumors occurs in children,their morphology and immunohistochemical phenotype diverse,needs differentiated with a variety of tumor.