Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent.

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 o

SUBMITTER: del Bufalo F 

PROVIDER: S-EPMC4279809 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature