Title |
Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent
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Published in |
Journal of Translational Medicine, December 2014
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DOI | 10.1186/s12967-014-0356-1 |
Pubmed ID | |
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 |
Abstract |
BackgroundGanglioglioma (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 presentationWe 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.ConclusionOur 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. |
X Demographics
Geographical breakdown
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 2% |
France | 1 | 2% |
Italy | 1 | 2% |
Unknown | 48 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 8 | 16% |
Researcher | 8 | 16% |
Student > Bachelor | 7 | 14% |
Other | 6 | 12% |
Student > Master | 6 | 12% |
Other | 6 | 12% |
Unknown | 10 | 20% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 17 | 33% |
Biochemistry, Genetics and Molecular Biology | 5 | 10% |
Agricultural and Biological Sciences | 5 | 10% |
Neuroscience | 3 | 6% |
Nursing and Health Professions | 2 | 4% |
Other | 6 | 12% |
Unknown | 13 | 25% |