Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia

BRAF alterations, namely BRAF fusion and BRAF V600E mutation, have been recently reported in low-grade epilepsy-associated tumors. Twenty low-grade epilepsy-associated tumors were retrieved to evaluate the BRAF mutational status. BRAF mutations were present in 10 tumors and concomitantly in associat...

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Detalles Bibliográficos
Autores principales: Marucci, Gianluca, de Biase, Dario, Visani, Michela, Giulioni, Marco, Martinoni, Matteo, Volpi, Llilia, Riguzzi, Patrizia, Rubboli, Guido, Michelucci, Roberto, Tallini, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4212486/
https://www.ncbi.nlm.nih.gov/pubmed/25356392
http://dx.doi.org/10.1002/acn3.31
Descripción
Sumario:BRAF alterations, namely BRAF fusion and BRAF V600E mutation, have been recently reported in low-grade epilepsy-associated tumors. Twenty low-grade epilepsy-associated tumors were retrieved to evaluate the BRAF mutational status. BRAF mutations were present in 10 tumors and concomitantly in associated dysplastic tissue of three patients. We here show for the first time that BRAF mutations are present not only in low-grade epilepsy-associated tumors but, in some cases, also in the associated focal cortical dysplasia.

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