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Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation

BACKGROUND: Ameloblastoma is a slow-growing neoplasm of the jaw, for which the standard treatment is surgical removal of the lesion with high recurrence rates and elevated morbidity. Systemic therapy is not established in the literature. CASE PRESENTATION: We present a case of a 29-year-old woman di...

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Autores principales: Fernandes, Gustavo S., Girardi, Daniel M., Bernardes, João Paulo G., Fonseca, Felipe P., Fregnani, Eduardo R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134697/
https://www.ncbi.nlm.nih.gov/pubmed/30208863
http://dx.doi.org/10.1186/s12885-018-4802-y
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author Fernandes, Gustavo S.
Girardi, Daniel M.
Bernardes, João Paulo G.
Fonseca, Felipe P.
Fregnani, Eduardo R.
author_facet Fernandes, Gustavo S.
Girardi, Daniel M.
Bernardes, João Paulo G.
Fonseca, Felipe P.
Fregnani, Eduardo R.
author_sort Fernandes, Gustavo S.
collection PubMed
description BACKGROUND: Ameloblastoma is a slow-growing neoplasm of the jaw, for which the standard treatment is surgical removal of the lesion with high recurrence rates and elevated morbidity. Systemic therapy is not established in the literature. CASE PRESENTATION: We present a case of a 29-year-old woman diagnosed with an ameloblastoma of the left mandible who had been subjected to several surgical procedures over twenty years due to multiple local recurrences. Molecular testing revealed a BRAF V600E mutation, and vemurafenib was started. She experienced complete resolution of symptoms related to the disease, and image scans evidenced continuous shrinkage of the neoplastic lesion after eleven months of therapy. CONCLUSION: This is the first report showing clinical benefit and radiological response with vemrafenib for recurrent ameloblastoma. Targeted therapy addressing BRAF V600E mutation has the potential to change clinical practice of this rare disease.
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spelling pubmed-61346972018-09-13 Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation Fernandes, Gustavo S. Girardi, Daniel M. Bernardes, João Paulo G. Fonseca, Felipe P. Fregnani, Eduardo R. BMC Cancer Case Report BACKGROUND: Ameloblastoma is a slow-growing neoplasm of the jaw, for which the standard treatment is surgical removal of the lesion with high recurrence rates and elevated morbidity. Systemic therapy is not established in the literature. CASE PRESENTATION: We present a case of a 29-year-old woman diagnosed with an ameloblastoma of the left mandible who had been subjected to several surgical procedures over twenty years due to multiple local recurrences. Molecular testing revealed a BRAF V600E mutation, and vemurafenib was started. She experienced complete resolution of symptoms related to the disease, and image scans evidenced continuous shrinkage of the neoplastic lesion after eleven months of therapy. CONCLUSION: This is the first report showing clinical benefit and radiological response with vemrafenib for recurrent ameloblastoma. Targeted therapy addressing BRAF V600E mutation has the potential to change clinical practice of this rare disease. BioMed Central 2018-09-12 /pmc/articles/PMC6134697/ /pubmed/30208863 http://dx.doi.org/10.1186/s12885-018-4802-y Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Fernandes, Gustavo S.
Girardi, Daniel M.
Bernardes, João Paulo G.
Fonseca, Felipe P.
Fregnani, Eduardo R.
Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation
title Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation
title_full Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation
title_fullStr Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation
title_full_unstemmed Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation
title_short Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation
title_sort clinical benefit and radiological response with braf inhibitor in a patient with recurrent ameloblastoma harboring v600e mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134697/
https://www.ncbi.nlm.nih.gov/pubmed/30208863
http://dx.doi.org/10.1186/s12885-018-4802-y
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