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Journal of Translational Medicine
Published in: Journal of Translational Medicine 1/2014

Open Access 01-12-2014 | Research

Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent

Authors: 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, Elisabetta Ferretti, Angela Mastronuzzi

Published in: Journal of Translational Medicine | Issue 1/2014

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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.
Appendix
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Metadata
Title
Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent
Authors
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
Elisabetta Ferretti
Angela Mastronuzzi
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Journal of Translational Medicine / Issue 1/2014
Electronic ISSN: 1479-5876
DOI
https://doi.org/10.1186/s12967-014-0356-1

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