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 article

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.

Original languageEnglish
Article number356
JournalJournal of Translational Medicine
Volume12
Issue number1
DOIs
Publication statusPublished - 2014

Fingerprint

Ganglioglioma
Pediatrics
Astrocytoma
Glioma
Chemotherapy
Surgery
Mutation
Phosphotransferases
Fusion reactions
Therapeutics
Chemical activation
Immunohistochemistry
Recurrence
Drug Therapy
PLX4032

Keywords

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

ASJC Scopus subject areas

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

Cite this

Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent. / Bufalo, Francesca del; Carai, Andrea; Fig-Talamanca, Lorenzo S.; Pettorini, Benedetta; Mallucci, Conor; Giangaspero, Felice; Antonelli, Manila; Badiali, Manuela; Moi, Loredana; Bianco, Giuseppe; Cacchione, Antonella; Locatelli, Franco; Ferretti, Elisabetta; Mastronuzzi, Angela.

In: Journal of Translational Medicine, Vol. 12, No. 1, 356, 2014.

Research output: Contribution to journalReview article

Bufalo, FD, Carai, A, Fig-Talamanca, LS, Pettorini, B, Mallucci, C, Giangaspero, F, Antonelli, M, Badiali, M, Moi, L, Bianco, G, Cacchione, A, Locatelli, F, Ferretti, E & Mastronuzzi, A 2014, 'Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent', Journal of Translational Medicine, vol. 12, no. 1, 356. https://doi.org/10.1186/s12967-014-0356-1
Bufalo, Francesca del ; Carai, Andrea ; Fig-Talamanca, Lorenzo S. ; Pettorini, Benedetta ; Mallucci, Conor ; Giangaspero, Felice ; Antonelli, Manila ; Badiali, Manuela ; Moi, Loredana ; Bianco, Giuseppe ; Cacchione, Antonella ; Locatelli, Franco ; Ferretti, Elisabetta ; Mastronuzzi, Angela. / Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent. In: Journal of Translational Medicine. 2014 ; Vol. 12, No. 1.
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AU - Antonelli, Manila

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AU - Moi, Loredana

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AU - Ferretti, Elisabetta

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AB - 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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