Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent
Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent
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DOI：
10.1186/s12967-014-0356-1
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发表时间：
2014-12-19
影响因子：
7.4
通讯作者：
Mastronuzzi, Angela
中科院分区：
文献类型：
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作者：
del Bufalo, Francesca;Carai, Andrea;Mastronuzzi, Angela
背景：神经节细胞胶质瘤（GG）和毛细胞星形细胞瘤（PA）是最常见的儿童低级别胶质瘤（LGG）。不适合完全切除（CR）的LGG代表了传统治疗经常失败的具有挑战性的亚组。激活的MAP激酶（MAPK）通路所造成的BRAFV 600 E突变或KIAA 1549-BRAF融合已报告在儿科GG和PA，分别介绍：我们报告一例BRAFV 600 E突变的颈髓GG与标准化疗和手术治疗。多次复发后，通过免疫组织化学和测序分析BRAF状态，显示BRAFV 600 E突变。开始维罗非尼单药治疗。第一次，放射学和临床反应后获得3个月的治疗和持续后6 months.Conclusion：我们的经验强调的重要性，了解驱动分子的LGG的改变，并建议Vemurafenib在治疗小儿GG不适合完全手术切除的作用。
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.