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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Main Authors: Joana S. Reis, Inês Costa, Mariana Costa, Ana Carmo Valente, Marta Baptista Freitas, Catarina Lopes Almeida, Marina Gonçalves, Carina Teixeira, Maria Ribeiro, Cláudia Caeiro, Catarina Fernandes, Miguel Barbosa
Format: Article
Language:English
Published: Karger Publishers 2022-11-01
Series:Case Reports in Oncology
Subjects:
Online Access:https://www.karger.com/Article/FullText/526533
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author Joana S. Reis
Inês Costa
Mariana Costa
Ana Carmo Valente
Marta Baptista Freitas
Catarina Lopes Almeida
Marina Gonçalves
Carina Teixeira
Maria Ribeiro
Cláudia Caeiro
Catarina Fernandes
Miguel Barbosa
author_facet Joana S. Reis
Inês Costa
Mariana Costa
Ana Carmo Valente
Marta Baptista Freitas
Catarina Lopes Almeida
Marina Gonçalves
Carina Teixeira
Maria Ribeiro
Cláudia Caeiro
Catarina Fernandes
Miguel Barbosa
author_sort Joana S. Reis
collection DOAJ
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 doaj.art-393a92b12db6443b80ac3da91f1cee762022-12-22T02:57:10ZengKarger PublishersCase Reports in Oncology1662-65752022-11-0115396096610.1159/000526533526533Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic OptionJoana S. ReisInês CostaMariana Costahttps://orcid.org/0000-0002-6235-1792Ana Carmo ValenteMarta Baptista Freitashttps://orcid.org/0000-0003-0383-1419Catarina Lopes Almeidahttps://orcid.org/0000-0001-9857-8692Marina GonçalvesCarina TeixeiraMaria RibeiroCláudia CaeiroCatarina FernandesMiguel BarbosaWe 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.https://www.karger.com/Article/FullText/526533precision oncologybraf mutationmetastatic thyroid cancerbraf inhibitorslenvatinib intolerance
spellingShingle Joana S. Reis
Inês Costa
Mariana Costa
Ana Carmo Valente
Marta Baptista Freitas
Catarina Lopes Almeida
Marina Gonçalves
Carina Teixeira
Maria Ribeiro
Cláudia Caeiro
Catarina Fernandes
Miguel Barbosa
Metastatic BRAF V600E-Mutated Thyroid Carcinoma: Molecular/Genetic Profiling Brings a New Therapeutic Option
Case Reports in Oncology
precision oncology
braf mutation
metastatic thyroid cancer
braf inhibitors
lenvatinib intolerance
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 precision oncology
braf mutation
metastatic thyroid cancer
braf inhibitors
lenvatinib intolerance
url https://www.karger.com/Article/FullText/526533
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