中枢神经系统非典型畸胎瘤样/横纹肌样瘤10例临床病理分析

目的 探讨中枢神经系统非典型畸胎瘤样/横纹肌样瘤(atypical teratoid/rhabdoid tumor,AT/RT)的临床病理学特征、诊断、鉴别诊断及预后.方法 回顾性分析2016年～2019年中南大学湘雅医院诊治的10例AT/RT的临床、影像学及病理学特征,并对其进行随访及相关文献复习.结果 10例患者发...

Atypical teratoid/rhabdoid tumor of the central nervous system:a clinicopathological analysis of 10 cases

Purpose To investigate the clinicopathological features,histological classification,immunophenotype,differential diagnosis and prognosis of atypical teratoid/rhabdoid tumor in the central nervous system.Methods 10 patients with atypical teratoid/rhabdoid tumor diagnosed in Xiangya Hospital of Central South University were collected from 2016 to 2019.The clinical,imaging and pathological features of 10 atypical teratoid/rhabdoid tumor were observed,and the follow-up and literature review were conducted.Results The ages of patients were 1-6 years old and the median age was 2.5 years.The main clinical symptoms were vomiting and walking instability.The tumors occurred in the cerebellum in 2 cases,the ventricle in 5 cases,and the frontal parietal lobe in 3 cases.MRI showed that space occupying lesions,some cystic changes accompanied with hemorrhage,and irregular or uneven enhancement after enhanced scanning.Histologically,the tumor cells were pleomorphic,with spindle cells,small round cells and medium-sized polygonal or round cells.Typical rhabdomyoid cells were found in some region.The tumor cells were arranged around the blood vessels,some were rich in mucinous background,with varying degrees of necrosis,and pathological nuclear mitosis was easy to see.Immunohistochemical staining showed multi-directional differentiation that the expression of Olig2,p53,GFAP,EMA,Syn,vimentin,CD99 were positive,and INI1 protein was absent in all cases.7 cases were followed up and 3 cases were lost.The median survival time was 5.8 months.Conclusion Atypical teratoid/rhabdoid tumor is a rare malignant embryonal tumor of the central nervous system.It is characterized by invasive growth,pleomorphic histology,and characteristic molecular genetic changes.The therapeutic effect and the prognosis are poor.