Mutou Jun, Hirose Yuichi, Ikeda Eiji, Yoshida Kazunari, Nakazato Yoichi, Kawase Takeshi
Department of Neurosurgery, School of Medicine, Keio University, Tokyo, Japan.
Neurol Med Chir (Tokyo). 2011;51(6):449-54. doi: 10.2176/nmc.51.449.
Rhabdoid tumor (RT) of the central nervous system is an uncommon and aggressive neoplasm that usually affects pediatric patients. Currently, these tumors are classified as malignant RT or atypical teratoid/RT. Another entity of intraparenchymal brain tumor with a rhabdoid component is the extremely rare rhabdoid glioblastoma. A 23-year-old woman presented with a malignant RT in the right thalamus. The tumor was adjacent to the right lateral ventricle and was partially resected. Histological examination revealed prominent proliferation of rhabdoid cells, which is consistent with a diagnosis of malignant RT; the typical features of glioblastoma were not observed. The tumor cells stained positively for integrase interactor-1 and glial fibrillary acidic protein. Therefore, the tumor may have originated from glial components. Genetic analysis using comparative genomic hybridization showed a deoxyribonucleic acid copy-number gain on chromosome 7 but not on chromosome 22. The tumor did not respond to chemotherapy or radiotherapy, and the patient survived for only 4 months after surgery. The present case of malignant RTs shows certain similarities with those of rhabdoid glioblastoma. Further accumulation and analysis of data, including data from genetic analyses, may lead to the identification of a new type of malignant RT.
中枢神经系统横纹肌样瘤（RT）是一种罕见且侵袭性强的肿瘤，通常影响儿童患者。目前，这些肿瘤被归类为恶性RT或非典型畸胎样/RT。另一种具有横纹肌样成分的脑实质内肿瘤实体是极为罕见的横纹肌样胶质母细胞瘤。一名23岁女性患者右侧丘脑出现恶性RT。肿瘤毗邻右侧脑室，部分切除。组织学检查显示横纹肌样细胞显著增生，符合恶性RT的诊断；未观察到胶质母细胞瘤的典型特征。肿瘤细胞整合酶相互作用蛋白-1和胶质纤维酸性蛋白染色呈阳性。因此，肿瘤可能起源于神经胶质成分。使用比较基因组杂交进行的基因分析显示7号染色体上有脱氧核糖核酸拷贝数增加，但22号染色体上没有。肿瘤对化疗或放疗均无反应，患者术后仅存活4个月。本病例的恶性RT与横纹肌样胶质母细胞瘤有一定相似之处。包括基因分析数据在内的进一步数据积累和分析可能会导致识别出一种新型恶性RT。
