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

Autor: Reis JS; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Costa I; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Costa M; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Valente AC; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Freitas MB; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Almeida CL; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Gonçalves M; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Teixeira C; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Ribeiro M; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Caeiro C; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Fernandes C; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal., Barbosa M; Centro Hospitalar Universitário de São João, E.P.E. Porto, Porto, Portugal.
Jazyk: angličtina
Zdroj: Case reports in oncology [Case Rep Oncol] 2022 Nov 08; Vol. 15 (3), pp. 960-966. Date of Electronic Publication: 2022 Nov 08 (Print Publication: 2022).
DOI: 10.1159/000526533
Abstrakt: 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.
Competing Interests: The authors have no conflicts of interest to declare.
(Copyright © 2022 by The Author(s). Published by S. Karger AG, Basel.)
Databáze: MEDLINE
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