复发性BRAFV600E突变型神经节胶质瘤对维莫非尼单药治疗的反应
Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent.
作者信息
del Bufalo Francesca, Carai Andrea, Figà-Talamanca Lorenzo, Pettorini Benedetta, Mallucci Conor, Giangaspero Felice, Antonelli Manila, Badiali Manuela, Moi Loredana, Bianco Giuseppe, Cacchione Antonella, Locatelli Franco, Ferretti Elisabetta, Mastronuzzi Angela
机构信息
Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant' Onofrio 4, 00165, Rome, Italy.
出版信息
J Transl Med. 2014 Dec 19;12:356. doi: 10.1186/s12967-014-0356-1.
BACKGROUND
Ganglioglioma (GG) and pilocytic astrocytoma (PA) represent the most frequent low-grade gliomas (LGG) occurring in paediatric age. LGGs not amenable of complete resection (CR) represent a challenging subgroup where traditional treatments often fail. Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively.
CASE PRESENTATION
We report on a case of BRAFV600E mutated cervicomedullary GG treated with standard chemotherapy and surgery. After multiple relapse, BRAF status was analyzed by immunohistochemistry and sequencing showing a BRAFV600E mutation. Treatment with Vemurafenib as single agent was started. For the first time, a radiological and clinical response was obtained after 3 months of treatment and sustained after 6 months.
CONCLUSION
Our experience underline the importance of understanding the driver molecular alterations of LGG and suggests a role for Vemurafenib in the treatment of pediatric GG not amenable of complete surgical resection.
背景
神经节胶质瘤（GG）和毛细胞型星形细胞瘤（PA）是儿童期最常见的低级别胶质瘤（LGG）。无法进行完全切除（CR）的LGG是一个具有挑战性的亚组，传统治疗方法往往在此类病例中失效。据报道，BRAFV600E突变或KIAA1549 - BRAF融合分别导致儿童GG和PA中丝裂原活化蛋白激酶（MAPK）通路的激活。
病例报告
我们报告了一例经标准化疗和手术治疗的BRAFV600E突变型颈髓GG病例。多次复发后，通过免疫组织化学和测序分析BRAF状态，显示存在BRAFV600E突变。开始使用维莫非尼单药治疗。首次在治疗3个月后获得了放射学和临床反应，并在6个月后持续存在。
结论
我们的经验强调了了解LGG驱动分子改变的重要性，并表明维莫非尼在治疗无法进行完全手术切除的儿童GG中具有一定作用。
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