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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2022
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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. |
format | Online Article Text |
id | pubmed-9830316 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
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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