Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent

Francesca del Bufalo, Andrea Carai, Lorenzo Figà-Talamanca, Benedetta Pettorini, Conor Mallucci, Felice Giangaspero, Manila Antonelli, Manuela Badiali, Loredana Moi, Giuseppe Bianco, Antonella Cacchione, Franco Locatelli (+2 others)
2014 Journal of Translational Medicine  
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
more » ... th 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.
doi:10.1186/s12967-014-0356-1 pmid:25524464 pmcid:PMC4279809 fatcat:t3qmi3lsh5gf5gmvy7gpiaisvq