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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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
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author Marucci, Gianluca
de Biase, Dario
Visani, Michela
Giulioni, Marco
Martinoni, Matteo
Volpi, Llilia
Riguzzi, Patrizia
Rubboli, Guido
Michelucci, Roberto
Tallini, Giovanni
author_facet Marucci, Gianluca
de Biase, Dario
Visani, Michela
Giulioni, Marco
Martinoni, Matteo
Volpi, Llilia
Riguzzi, Patrizia
Rubboli, Guido
Michelucci, Roberto
Tallini, Giovanni
author_sort Marucci, Gianluca
collection PubMed
description 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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spelling pubmed-42124862014-10-29 Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia Marucci, Gianluca de Biase, Dario Visani, Michela Giulioni, Marco Martinoni, Matteo Volpi, Llilia Riguzzi, Patrizia Rubboli, Guido Michelucci, Roberto Tallini, Giovanni Ann Clin Transl Neurol Brief Communications 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. BlackWell Publishing Ltd 2014-02 2014-01-09 /pmc/articles/PMC4212486/ /pubmed/25356392 http://dx.doi.org/10.1002/acn3.31 Text en © 2014 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Marucci, Gianluca
de Biase, Dario
Visani, Michela
Giulioni, Marco
Martinoni, Matteo
Volpi, Llilia
Riguzzi, Patrizia
Rubboli, Guido
Michelucci, Roberto
Tallini, Giovanni
Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia
title Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia
title_full Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia
title_fullStr Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia
title_full_unstemmed Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia
title_short Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia
title_sort mutant braf in low-grade epilepsy-associated tumors and focal cortical dysplasia
topic Brief Communications
url 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
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