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Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option

We describe a case of a 46-year-old woman diagnosed with localized PTC 20 years ago, having already undergone several treatments with iodine-131 and then treatment with lenvatinib for metastatic disease, to which she developed intolerance. In 2020, in addition to pleural, thoracic, and abdominal lym...

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Autores principales: Reis, Joana S., Costa, Inês, Costa, Mariana, Valente, Ana Carmo, Freitas, Marta Baptista, Almeida, Catarina Lopes, Gonçalves, Marina, Teixeira, Carina, Ribeiro, Maria, Caeiro, Cláudia, Fernandes, Catarina, Barbosa, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830316/
https://www.ncbi.nlm.nih.gov/pubmed/36636677
http://dx.doi.org/10.1159/000526533
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author Reis, Joana S.
Costa, Inês
Costa, Mariana
Valente, Ana Carmo
Freitas, Marta Baptista
Almeida, Catarina Lopes
Gonçalves, Marina
Teixeira, Carina
Ribeiro, Maria
Caeiro, Cláudia
Fernandes, Catarina
Barbosa, Miguel
author_facet Reis, Joana S.
Costa, Inês
Costa, Mariana
Valente, Ana Carmo
Freitas, Marta Baptista
Almeida, Catarina Lopes
Gonçalves, Marina
Teixeira, Carina
Ribeiro, Maria
Caeiro, Cláudia
Fernandes, Catarina
Barbosa, Miguel
author_sort Reis, Joana S.
collection PubMed
description We describe a case of a 46-year-old woman diagnosed with localized PTC 20 years ago, having already undergone several treatments with iodine-131 and then treatment with lenvatinib for metastatic disease, to which she developed intolerance. In 2020, in addition to pleural, thoracic, and abdominal lymph node metastasis, progression with symptomatic vertebral bone metastasis was detected, which led to the equation of new therapeutic options. In this context, a genetic/molecular test was carried out, which identified the BRAF V600E mutation and enabled the start of treatment with dabrafenib/trametinib since June 2020. This treatment allowed functional gain, symptomatic relief, and stabilization of the disease. It demonstrates how, in rare tumors, the personalized medicine approach can bring new treatment possibilities.
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spelling pubmed-98303162023-01-11 Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option Reis, Joana S. Costa, Inês Costa, Mariana Valente, Ana Carmo Freitas, Marta Baptista Almeida, Catarina Lopes Gonçalves, Marina Teixeira, Carina Ribeiro, Maria Caeiro, Cláudia Fernandes, Catarina Barbosa, Miguel Case Rep Oncol Case Report We describe a case of a 46-year-old woman diagnosed with localized PTC 20 years ago, having already undergone several treatments with iodine-131 and then treatment with lenvatinib for metastatic disease, to which she developed intolerance. In 2020, in addition to pleural, thoracic, and abdominal lymph node metastasis, progression with symptomatic vertebral bone metastasis was detected, which led to the equation of new therapeutic options. In this context, a genetic/molecular test was carried out, which identified the BRAF V600E mutation and enabled the start of treatment with dabrafenib/trametinib since June 2020. This treatment allowed functional gain, symptomatic relief, and stabilization of the disease. It demonstrates how, in rare tumors, the personalized medicine approach can bring new treatment possibilities. S. Karger AG 2022-11-08 /pmc/articles/PMC9830316/ /pubmed/36636677 http://dx.doi.org/10.1159/000526533 Text en Copyright © 2022 by The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Reis, Joana S.
Costa, Inês
Costa, Mariana
Valente, Ana Carmo
Freitas, Marta Baptista
Almeida, Catarina Lopes
Gonçalves, Marina
Teixeira, Carina
Ribeiro, Maria
Caeiro, Cláudia
Fernandes, Catarina
Barbosa, Miguel
Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option
title Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option
title_full Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option
title_fullStr Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option
title_full_unstemmed Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option
title_short Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option
title_sort metastatic braf v600e-mutated thyroid carcinoma: molecular/genetic profiling brings a new therapeutic option
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830316/
https://www.ncbi.nlm.nih.gov/pubmed/36636677
http://dx.doi.org/10.1159/000526533
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