Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent

Francesca del Bufalo, Andrea Carai, Lorenzo S. Fig-Talamanca, Benedetta Pettorini, Conor Mallucci, Felice Giangaspero, Manila Antonelli, Manuela Badiali, Loredana Moi, Giuseppe Bianco, Antonella Cacchione, Franco Locatelli, Elisabetta Ferretti, Angela Mastronuzzi

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number356
JournalJournal of Translational Medicine
Issue number1
Publication statusPublished - 2014


  • BRAF V600E
  • Ganglioglioma
  • Low Grade Glioma
  • MAP Kinase pathway
  • Vemurafenib

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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