Department of Surgery, Division of Neurosurgery, Duke University Medical Center, Durham, NC, USA.
J Neurosurg. 2013 Aug;119(2):412-9. doi: 10.3171/2013.3.JNS121773. Epub 2013 May 3.
Rhabdoid glioblastoma (GB) is an exceedingly rare tumor in which some of the tumor cells possess rhabdoid features such as eccentric nuclei, abundant eosinophilic cytoplasm, and pseudopapillary formations. These tumors are exceptionally aggressive, and leptomeningeal dissemination is common. In the 9 previously reported cases, the longest survival was only 9 months, with a median survival of 17.8 weeks. The authors report the clinicopathological characteristics of 4 cases of rhabdoid GB and demonstrate the utility of intensive temozolomide and adjuvant therapy in these tumors. The authors also review the literature to provide the most comprehensive understanding of these rare tumors to date.
A retrospective review was performed of patients treated for GB at the Duke University Medical Center between 2004 and 2012. One of two experienced neuropathologists identified 4 cases as being rhabdoid GBs. Immunohistochemistry and fluorescence in situ hybridization analyses were performed in all cases. Kaplan-Meier analysis was used to assess overall survival, with the log-rank test being used to evaluate differences between survival curves. An extensive review of the literature was also performed.
The median age of patients with rhabdoid GB was 30 years. Clinical presentation varied with location, with headache being a presenting symptom in 90% of patients. All lesions were supratentorial, and 45.5% of the cases involved the temporal lobe. Leptomeningeal dissemination occurred in 63.6% of patients, with 1 patient having extracranial metastasis to the scalp and lungs. Fluorescence in situ hybridization revealed epidermal growth factor receptor gain or amplification in all study cases. The median survival in the authors' cohort was significantly higher than that of all previously reported cases (27.5 vs 4.5 months, p = 0.003). Postoperative treatment in the authors' cohort included radiotherapy with concurrent temozolomide, bevacizumab, interleukin 13, CCNU, and/or etoposide.
Enhanced survival in the authors' 4 patients suggests that the current standard of care for the treatment of GB may be beneficial in rhabdoid GB cases, with postoperative radiotherapy and concomitant temozolomide treatment followed by adjuvant therapy. Due to the rapid tumor dissemination associated with these lesions, aggressive and timely therapy is warranted, with frequent surveillance and/or continued therapy despite stable disease. Additionally, patients should undergo full craniospinal imaging to monitor the development of distant metastatic disease.
横纹肌样胶质母细胞瘤（GB）是一种极为罕见的肿瘤，其部分肿瘤细胞具有横纹肌样特征，如偏心核、丰富的嗜酸性细胞质和假乳头状形成。这些肿瘤极具侵袭性，脑膜播散很常见。在之前报告的 9 例病例中，最长生存时间仅为 9 个月，中位生存时间为 17.8 周。作者报告了 4 例横纹肌样 GB 的临床病理特征，并证明了在这些肿瘤中强化替莫唑胺和辅助治疗的有效性。作者还回顾了文献，以提供迄今为止对这些罕见肿瘤的最全面了解。
对 2004 年至 2012 年在杜克大学医学中心接受 GB 治疗的患者进行了回顾性分析。两位经验丰富的神经病理学家之一将 4 例病例鉴定为横纹肌样 GB。对所有病例均进行了免疫组化和荧光原位杂交分析。采用 Kaplan-Meier 分析评估总生存期，采用对数秩检验评估生存曲线之间的差异。还对文献进行了广泛的回顾。
横纹肌样 GB 患者的中位年龄为 30 岁。临床表现因病变位置而异，头痛是 90%患者的首发症状。所有病变均位于幕上，45.5%的病例累及颞叶。63.6%的患者发生脑膜播散，1 例患者发生颅外转移至头皮和肺部。荧光原位杂交显示所有研究病例均存在表皮生长因子受体获得或扩增。作者队列的中位生存期明显高于所有先前报告的病例（27.5 与 4.5 个月，p=0.003）。作者队列的术后治疗包括放疗联合替莫唑胺、贝伐珠单抗、白细胞介素 13、洛莫司汀和/或依托泊苷。
作者的 4 例患者的生存时间延长表明，目前治疗胶质母细胞瘤的标准治疗方法可能对横纹肌样 GB 病例有益，术后行放疗联合替莫唑胺治疗，然后进行辅助治疗。由于这些病变与肿瘤快速播散相关，因此需要积极及时的治疗，并在病情稳定时进行频繁监测和/或持续治疗。此外，患者应接受全脑脊髓成像以监测远处转移性疾病的发展。
