22例儿童中枢神经系统AT/RT临床分析

Clinical analysis of 22 children with atypical teratoid/rhabdoid tumors in central nervous system

目的探讨儿童中枢神经系统非典型畸胎瘤样/横纹肌样瘤(AT/RT)的特点。方法收集22例中枢神经系统AT/RT患儿的临床资料,总结其临床和病理特征。结果 22例中有19例原发部位为颅内,3例为脊髓。22例中16例(72.7%)行头颅MRI,均见占位性病变,T2加权像均显示高信号;5例(22.7%)行CT均见不规则软组织密度肿块。22例的病理检查均见特征性的横纹肌样细胞,伴有不同程度的原始神经外胚叶、上皮和间质分化,10例(45.5%)组织形态多样,12例(54.5%)组织形态单一。免疫组织化学检查结果显示22例肿瘤细胞均表达波形蛋白,胶质纤维酸性蛋白、突触素、结蛋白、广谱细胞角蛋白均阴性,21例(95.5%)InI-1/hs NF5阴性(1例未检测)。结论儿童中枢神经系统AT/RT原发部位多为颅内,病理组织形态及免疫组织化学表现均具有其特殊性。

Objective To investigate the characteristics of pediatric atypical teratoid/rhabdoid tumors( AT/RT) in the central nervous system. Methods Clinical data of 22 children diagnosed with central nervous system AT/RT were collected. Clinical and pathological characteristics were summarized. Results Among 22 cases,19 children were diagnosed with primary intracranial AT/RT and 3 with primary AT/RT in the spinal cord. Among them,16( 72. 7%) children received head MRI and presented with space-occupying lesions. T2-weighted imaging demonstrated the hyperintense signals. Five( 22. 7%) children received CT scan,all presented with soft tissue tumors with irregular density. Histopathological examinations of 22 cases all showed typical rhabdoid cells,accompanied by varying degree of primitive neuroectodermal,epithelial or mesenchymal differentiation,10 cases( 45. 5%) presented various forms and 12 cases( 54. 5%) presented single form. Immunohistochemical staining revealed that the tumor cells in 22 children were positive for vimentin,whereas negative for glial fibrillary acidic protein,synaptophysin,desmin and broad-spectrum cytokeratin.Among them,21( 95. 5%) cases were negative for InI-1/hs NF5 and the detection was not performed in the remaining 1 case. Conclusion Most pediatric central nervous system AT/RT primarily occurs within the brain.The pathological and immunohistochemical features of AT/RT are specific.