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Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma

Key molecular alterations found in the diagnosis and prognosis of brain tumours have been revealed by the latest advances in transcriptomic and genome-wide analysis. In-depth studies revealed that alterations of the V-Raf murine sarcoma viral oncogene homolog B (BRAF) could be shared by different br...

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Autores principales: Costa, Inês N, Reis, Joana, Pinheiro, Jorge, Silva, Roberto, Fernandes, Catarina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491679/
https://www.ncbi.nlm.nih.gov/pubmed/36158392
http://dx.doi.org/10.7759/cureus.28156
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author Costa, Inês N
Reis, Joana
Pinheiro, Jorge
Silva, Roberto
Fernandes, Catarina
author_facet Costa, Inês N
Reis, Joana
Pinheiro, Jorge
Silva, Roberto
Fernandes, Catarina
author_sort Costa, Inês N
collection PubMed
description Key molecular alterations found in the diagnosis and prognosis of brain tumours have been revealed by the latest advances in transcriptomic and genome-wide analysis. In-depth studies revealed that alterations of the V-Raf murine sarcoma viral oncogene homolog B (BRAF) could be shared by different brain tumour types. The identification of BRAF p.V600E mutations in gliomas is nowadays of more importance regarding the development of BRAF-targeted inhibitors. This report presents the case of a 37-year-old female with a voluminous expansive neoplastic lesion, extending from the lenticulocapsular region to the medial aspect of the temporal lobe on the left. Pathological examination revealed an astrocytic neoplasm without high-grade histological features in small biopsy fragments. The molecular study revealed the presence of a mutation in the BRAF V600E gene and CDKN2A/2B homozygous deletion. The lesion was partially removed and irradiated. The patient has been on treatment with dabrafenib plus trametinib for 10 months. In addition to reasonable tolerance, she obtained an impressive tumour reduction, which was manifested in the complete resolution of neurological deficits and in the full acquisition of autonomy. The remarkable results reported in this clinical case justify the pressing need to identify new therapeutic targets in gliomas in the current era of precision medicine.
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spelling pubmed-94916792022-09-23 Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma Costa, Inês N Reis, Joana Pinheiro, Jorge Silva, Roberto Fernandes, Catarina Cureus Pathology Key molecular alterations found in the diagnosis and prognosis of brain tumours have been revealed by the latest advances in transcriptomic and genome-wide analysis. In-depth studies revealed that alterations of the V-Raf murine sarcoma viral oncogene homolog B (BRAF) could be shared by different brain tumour types. The identification of BRAF p.V600E mutations in gliomas is nowadays of more importance regarding the development of BRAF-targeted inhibitors. This report presents the case of a 37-year-old female with a voluminous expansive neoplastic lesion, extending from the lenticulocapsular region to the medial aspect of the temporal lobe on the left. Pathological examination revealed an astrocytic neoplasm without high-grade histological features in small biopsy fragments. The molecular study revealed the presence of a mutation in the BRAF V600E gene and CDKN2A/2B homozygous deletion. The lesion was partially removed and irradiated. The patient has been on treatment with dabrafenib plus trametinib for 10 months. In addition to reasonable tolerance, she obtained an impressive tumour reduction, which was manifested in the complete resolution of neurological deficits and in the full acquisition of autonomy. The remarkable results reported in this clinical case justify the pressing need to identify new therapeutic targets in gliomas in the current era of precision medicine. Cureus 2022-08-19 /pmc/articles/PMC9491679/ /pubmed/36158392 http://dx.doi.org/10.7759/cureus.28156 Text en Copyright © 2022, Costa et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pathology
Costa, Inês N
Reis, Joana
Pinheiro, Jorge
Silva, Roberto
Fernandes, Catarina
Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma
title Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma
title_full Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma
title_fullStr Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma
title_full_unstemmed Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma
title_short Dabrafenib Plus Trametinib: An Impressive Response in an Adult Patient With BRAF V600E-Mutated and Isocitrate Dehydrogenase (IDH) Wild-Type Glioma
title_sort dabrafenib plus trametinib: an impressive response in an adult patient with braf v600e-mutated and isocitrate dehydrogenase (idh) wild-type glioma
topic Pathology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491679/
https://www.ncbi.nlm.nih.gov/pubmed/36158392
http://dx.doi.org/10.7759/cureus.28156
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