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Case Reports
. 2022 Nov 8;15(3):960-966.
doi: 10.1159/000526533. eCollection 2022 Sep-Dec.

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

Joana S Reis  1 , Inês Costa  1 , Mariana Costa  1 , Ana Carmo Valente  1 , Marta Baptista Freitas  1 , Catarina Lopes Almeida  1 , Marina Gonçalves  1 , Carina Teixeira  1 , Maria Ribeiro  1 , Cláudia Caeiro  1 , Catarina Fernandes  1 , Miguel Barbosa  1
Affiliations
Case Reports

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

Joana S Reis et al. Case Rep Oncol. .

Abstract

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.

Keywords: BRAF inhibitors; BRAF mutation; Lenvatinib intolerance; Metastatic thyroid cancer; Precision oncology.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
18F-FDG-PET/CT scan from March 2019.
Fig. 2
Fig. 2
Temporal evolution in CT imaging.
Fig. 3
Fig. 3
Treatment approach timeline.
See this image and copyright information in PMC

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