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.
Del Bufalo, F., Carai, A., Figà-Talamanca, L., Pettorini, B., Mallucci, C., Giangaspero, F., Antonelli, M., Badiali, M., Moi, L., Bianco, G., Cacchione, A., Locatelli, F., Ferretti, E., Mastronuzzi, A., Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent, <<JOURNAL OF TRANSLATIONAL MEDICINE>>, 2014; 12 (1): N/A/-N/A. [doi:10.1186/s12967-014-0356-1] [https://hdl.handle.net/10807/243194]
Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent
Locatelli, Franco;
2014
Abstract
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.
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