Journal of translational medicine · 2014
Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.
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.