摘要目的 通过分析横纹肌样胶质母细胞瘤的临床病理学特征,探讨其诊断要点,以期提高对该肿瘤的鉴别诊断能力.方法 10岁和45岁女性患者,分别因头痛伴肢体抽搐和视力模糊入院,MRI检查分别显示右侧颞枕叶和左小脑占位性病变.2例患者均行手术完整切除肿瘤,常规HE染色和免疫组织化学染色,并行荧光原位杂交法检测1p/19q缺失状况.结果 2例肿瘤组织学构象相似,均可见经典胶质母细胞瘤背景中出现体积大、胞质丰富嗜酸性、核大偏位、核仁明显的横纹肌样细胞.免疫组织化学染色显示横纹肌样细胞波形蛋白弥漫强阳性,并灶性表达胶质纤维酸性蛋白(GFAP)、上皮细胞膜抗原(EMA)和细胞角蛋白(CK).2例均显示INI-1小灶表达缺失,其中1例可检测到1p/19q共同缺失,2例IDH1 R132H均阴性.2例患者术后均给予同步放化疗,1例随访16个月无复发,另1例术后9个月脊髓播散死亡.结论 横纹肌样胶质母细胞瘤是少见的高侵袭性胶质肿瘤,组织学形态与其他具有"横纹肌样"特征的肿瘤相似,除细致的组织学观察外,联合使用免疫组织化学套餐波形蛋白、GFAP、CK、EMA、平滑肌肌动蛋白和INI-1有助于相似病变的鉴别.

abstractsObjective To discuss the clinicopathologic features of rhabdoid glioblastoma of the brain and its differential diagnoses.Methods A 10-year-old and a 45-year-old female both presented with gradually worsening headache, limbs twitch and blurred vision.MRI scan revealed a contrast enhancing tumor in the right temporal lobe and left cerebellum respectively.Both patients underwent tumor resection,followed by postoperative radiotherapy and chemotherapy.Results Microscopic examination of both tumors showed rhabdoid tumor cells with an eccentric nuclei and eosinophilic cytoplasms.Both tumors had areas of classic glioblastoma with microvascular proliferation and necrosis.Immunohistochemical staining showed the rhabdoid tumor cells were positive for vimentin diffusely and GFAP, EMA, CK focally.Integrase interactor (INI-1) was expressed in most tumor cells, but IDH1 R132H was not detected in both tumors.Fluorescence in situ hybridization revealed 1 p/19q co-deletion in one case.One patient was alive without tumor recurrence after 16 months follow-up, the other patient died of intraspinal tumor dissemination 9 months after surgery.Conclusions Rhabdoid glioblastoma is a rare glial cell tumor with specific rhabdoid tumor cells, a highly aggressive clinical course and poor prognosis.Combining histological features, a panel of selected immunostains including vimentin, GFAP, CK, EMA, SMA and INI-1 is helpful in making an accurate diagnosis for those diagnostically challenging cases with rhabdoid features in central nervous system.