中枢神经系统非典型畸胎样/横纹肌样瘤19例临床病理分析  

Atypical teratoid/rhabdoid tumor in central nervous system:a clinicopathologic analysis of nineteen cases

作　　者：余天平[1] 尹晓雪[1] 杨喜彪 月强[2] 龚静[1] 周桥[1] 陈铌[1] YU Tian-ping;YIN Xiao-xue;YANG Xi-biao;YUE Qiang;GONG Jing;ZHOU Qiao(Department of Pathology;Department of Radiology,West China Hospital,West China Medical School,Siehuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院病理科,成都610041 [2]四川大学华西医院放射科,成都610041

出　　处：《诊断病理学杂志》2018年第9期615-619,共5页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨中枢神经系统非典型畸胎样/横纹肌样瘤(AT/RT)的临床病理特点、免疫表型及鉴别诊断。方法回顾性分析四川大学华西医院2006—2016年确诊的19例AT/RT,总结其临床特点、影像学表现及病理特征。结果患者年龄5~180个月,中位年龄18个月。男女之比2.8∶1。发生于幕上者8例,幕下者11例。肿瘤平均直径4.6 cm(2~9.1 cm)。患者临床症状和肿瘤部位与患者年龄相关。影像学显示肿瘤呈实性或囊实性,T1增强扫描可见不均匀强化。镜下,除表现为典型的横纹肌样瘤形态,还呈现多向分化,其中13例可见原始神经外胚层分化,9例可见上皮样分化,6例可见间叶分化,5例可见钙化。免疫组化示本组病例INI1蛋白均表达缺失,未检出BRG1蛋白表达缺失,肿瘤细胞不同程度GFAP、EMA、PCK、S-100和SMA(+)。17例获得随访资料,2例失访,中位生存时间6个月,其中<3岁患者中位生存时间3.5个月,>6岁患者中位生存时间24个月。结论 AT/RT是一种少见的儿童中枢神经系统恶性肿瘤,预后较差。其组织学形态多样,具有特征性的分子遗传学改变,需与其他儿童中枢神经系统肿瘤鉴别。Purpose To investigate the clinicopathologic features,immunohistochemical phenotype and differential diagnosis of atypical teratoid/rhabdoid tumor（ AT/RT） in the central nervous system（ CNS）. Methods The clinical and imaging features and pathologic morphology of 19 AT/RT were reviewed retrospectively. Results The ages of patients were 5 ~ 180 months and the median age was 18 months. The ratio of male to female was 2. 8∶ 1. Eight cases were supratentorial and 11 were infratentorial tumors. The median diameter was 4. 6 cm（ ranged 2 ~ 9. 1 cm）. The clinical manifestations were related to the location of the tumors and the age of the patients. MRI revealed that these tumors were completely solid or solid and cystic with nonhomogeneous enhancement on T1-weighted contrast enhanced image.Histologically,typical rhabdoid tumor cells were observed in all the cases. Some cases contained variable components,including primitive neuroectodermal component in 13 cases,epithelial component in 9 cases and mesenchymal component in6 cases. Calcification was observed in 5 cases. Immunohistochemical staining showed that all the tumor cells lost expression of INI1 protein and BRG1 protein was present. GFAP,EMA,PCK,S-100 and SMA were partially expressed in some cases. Seventeen cases were followed up. The median survival time was 6 months,whereas the median survival time was3. 5 months in patients younger than 3 years,and 24 months in patients older than 6 years,respectively. Conclusions AT/RT is a rare malignant central nervous system tumor of childhood with poor prognosis. It has variable histologic features and characteristic molecular genetic change. It is important to distinguish AT/RT from other tumors of the CNS.

关 键 词：中枢神经系统肿瘤 非典型畸胎样/横纹肌样瘤 INI1 BRG1 

分 类 号：R739.4[医药卫生—肿瘤]