Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center

• Autor(a) principal: Mendonça-Sanches, Maria
• Data de Publicação: 2020
• Outros Autores: Apalhão, Miguel, Vale-Fernandes, Pedro, Rito, Miguel, Costa-Rosa, Joaninha, Moura, Cecília
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.29021/spdv.78.1.1150
• topic: Melanoma/genetics; Mutation; Proto-Oncogene Proteins B-raf; Skin Neoplasms/genetics; Melanoma/genética; Mutação; Neoplasias da Pele; Proteínas Proto-Oncogénicas B-raf

Introduction: Although corresponding to only 5% of cutaneous neoplasms, melanoma is the tumor of this organ with the highest mortality rate. The constant development of new drugs, particularly those targeting the B-Raf protein, has significantly increased overall patient survival. To date, several studies have evaluated the clinical-pathological correlations with this mutation. However, no study has been published regarding the Portuguese population. Material & Methods: In the present study, the authors investigated the existence of clinico-pathological correlations with the presence or absence of BRAF mutation in a population of patients with metastatic cutaneous melanoma, in order to identify prognostic factors related to this cell signaling pathway. Results: A total of 197 melanoma patients’ clinical processes with BRAF mutation tested, observed at the IPOLFG Dermatology Service between January 2012 and December 2016, were evaluated. The BRAF mutation was documented in 46.7% (n=92) of the patients, 60% of which (n=56) were male. Fifty-two percent (n=48) of the primary tumors were located in the trunk, suggesting the association of the mutation with intermittent sun exposure. In 40% of patients (n=79) metastasis occurred at multiple anatomical sites. The percentage of patients with metastasis in a single anatomical site was 60% (n = 118), with the most frequently involved sites being locoregional ganglion chains (36%, n=43) and lung (26.6%, n=25). Conclusion: The results presented did not reveal differences in the studied Portuguese population, in agreement with those documented for other populations and described in the literature.