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

Joana S. Reis,Ines Costa,Mariana Costa,Ana Carmo Valente,Marta Baptista Freitas, Catarina Lopes Almeida, Marina Goncalves, Carina Teixeira, Maria Ribeiro,Claudia Caeiro,Catarina Fernandes,Miguel Barbosa

Case reports in oncology(2022)

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摘要
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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关键词
Precision oncology,BRAF mutation,Metastatic thyroid cancer,BRAF inhibitors,Lenvatinib intolerance
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