TY - JOUR
T1 - Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent
AU - del Bufalo, Francesca
AU - Carai, Andrea
AU - Figà-Talamanca, Lorenzo
AU - Pettorini, Benedetta
AU - Mallucci, Conor
AU - Giangaspero, Felice
AU - Antonelli, Manila
AU - Badiali, Manuela
AU - Moi, Loredana
AU - Bianco, Giuseppe
AU - Cacchione, Antonella
AU - Locatelli, Franco
AU - Ferretti, Elisabetta
AU - Mastronuzzi, Angela
PY - 2014
Y1 - 2014
N2 - 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.
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.
KW - BRAF V600E
KW - Ganglioglioma
KW - Low Grade Glioma
KW - MAP Kinase pathway
KW - Vemurafenib
KW - BRAF V600E
KW - Ganglioglioma
KW - Low Grade Glioma
KW - MAP Kinase pathway
KW - Vemurafenib
UR - https://publicatt.unicatt.it/handle/10807/243194
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85016650337&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85016650337&origin=inward
U2 - 10.1186/s12967-014-0356-1
DO - 10.1186/s12967-014-0356-1
M3 - Article
SN - 1479-5876
VL - 12
SP - N/A/-N/A
JO - Journal of Translational Medicine
JF - Journal of Translational Medicine
IS - 1
ER -