中枢神经系统非典型畸胎样/横纹肌样瘤临床病理特征及INI1的表达(附一例报道)

目的 探讨中枢神经系统非典型畸胎样/横纹肌样瘤的临床病理特征,评价INI1抗体在肿瘤诊断中的意义.方法 对1例儿童中枢神经系统非典型畸胎样/横纹肌样瘤患者的临床资料及病理特征进行总结,应用免疫组化染色检测INI1蛋白表达情况,并结合文献进行回顾性分析.结果 组织学显示肿瘤主要由两种成分构成,包括典型的横纹肌样细胞成分和原始间叶成分.免疫组化染色结果显示两种成分Vimentin、CD99均阳性表达,横纹肌样细胞SMA阳性表达、EMA局灶阳性表达,原始间叶成分SMA、EMA阴性表达.血管内皮细胞核INI1阳性表达,肿瘤细胞核INI1阴性表达.随访示患儿术后2月余死亡.结论 中枢神经系统非典型畸胎样/横纹肌样瘤为高度侵袭性肿瘤,横纹肌样细胞是其重要的形态特征和鉴别诊断的主要依据.肿瘤出现两种成分表明肿瘤细胞有多方向分化的潜能,显示胚胎性肿瘤的特征.肿瘤细胞核INI1阴性表达提示肿瘤细胞有INI1基因突变或缺失,对明确诊断有重要参考价值.

Clinical and pathological features of atypical teratoid/rhabdoid tumor in the central nervous system and diagnostic significance of INI1 expression in the tumor:report of one case

Objective To investigate the clinical and pathological features of pediatric CNS atypical teratoid/rhabdoid tumor(AT/RT)and evaluate the role of INI1 antibody on the differential diagnosis and prognosis of AT/RT.Methods The clinical data and pathological features of 12-year-old boy with AT/RT were concluded.The protein expression of INI1 was detected by immunohistochemistry;follow-up was performed and relative documents of that disease were compared;the above data were retrospectively analyzed.Results Mioroanatomy showed typical teratoid cells and primitive mesenchymal cells in the tumor.Both of these 2 tumor components displayed positive reactions of vimentin and CD99.The SMA and EMA positive expressions were noted in the teratoid cells.Immunohistochemical staining demonstrated that INI1 antibody was nuclear negative in tumor cells,but positive within endothelial cells of the blood.Follow-up information showed the patient was dead 2 months after the operation.Conclusions CNS atypical AT/RT is highly aggressive tumor.The appearance of rhabdoid cells is its important morphologic features and its main differential diagnosis evidence.Mesenchymal components and the various results of immunohistochemical staining indicate that AT/RT tumor cells,having the character of the embryonal tumors,have various differentiation potential.The expression of INI1 antibody suggests that a mutation or deletion in the INI1 gene occurs in the tumor,which has important value in diagnosing and differentiating the tumor.