TERT, BRAF, and NRAS in Primary Thyroid Cancer and Metastatic Disease

• Tipo: Artigo em Revista Científica Internacional
• Data: 2017

Autores

Melo, M (Autor) Outra; da Rocha, AG (Autor) Outra; Batista, R (Autor) Outra; Vinagre, J (Autor) Outra; Martins, MJ (Autor) Outra; Costa, G (Autor) Outra; Ribeiro, C (Autor) Outra; Carrilho, F (Autor) Outra; Leite, V (Autor) Outra; Lobo, C (Autor) Outra; Cameselle Teijeiro, JM (Autor) Outra; Cavadas, B (Autor) Outra; Pereira, L (Autor) Outra; Sobrinho Simoes, M (Autor) Outra; Soares, P (Autor) FMUP

Revista

Título: Journal of Clinical Endocrinology and Metabolism

Vol. 102

Páginas: 1898-1907

ISSN: 0021-972X

Editora: Endocrine Society

Indexação

ISI Web of Knowledge - 98 Citações

Scopus - 109 Citações

Outras Informações

ID Authenticus: P-00N-F9R

DOI: 10.1210/jc.2016-2785

Abstract (EN): Context: Little is known about the frequency of key mutations in thyroid cancer metastases and its relationship with the primary tumor genotype. Objectives: To evaluate the frequency of TERT promoter (TERTp), BRAF, and NRAS mutations in metastatic thyroid carcinomas, analyzing primary thyroid tumors, lymphnode metastases (LNMs), and distant metastases. Design and Patients: Mutation analysis was performed in 437 tissue samples from 204 patients, mainly with papillary thyroid carcinomas (PTCs; n = 180), including 196 LNMs and 56 distant metastases. All the distant metastases included corresponded to radioiodine-refractory metastatic tissue. Results: We found the following mutation frequency in primary PTCs, LNMs, and distant metastases, respectively: TERTp: 12.9%, 10.5%, and 52.4%; BRAF: 44.6%, 41.7%, and 23.8%; and NRAS: 1.2%, 1.3%, and 14.3%. There was a significant concordance between the primary tumor genotype and the corresponding LNM for all the genes, in particular BRAF-mutated PTC. The overall concordance between primary tumors and respective distant metastases was low. In the group of patients with PTCs, we found a high frequency of TERTp mutations and a low frequency of BRAF mutations in distant metastases, in comparison with the paired primary tumors. When present in distant metastases, BRAF mutations frequently coexisted with TERTp mutations. Conclusions: When the genotype of primary tumors is compared with the genotype of LNMs, the concordance is high for all the genes studied. On the other hand, distant metastases show an enrichment in TERTp mutations and a decrease in BRAF mutations. TERTp mutations may play a role in distant metastases.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 10