A new BRAF gene mutation detected in a case of a solid variant of papillary thyroid carcinoma

• Tipo: Artigo em Revista Científica Internacional
• Data: 2005

Autores

Trovisco, V (Autor) Outra; Soares, P (Autor) FMUP; Soares, R (Autor) Outra; Magalhaes, J (Autor) Outra; Sa Couto, P (Autor) Outra; Sobrinho Simoes, M (Autor) FMUP

Revista

Título: Human Pathology

Vol. 36

Páginas: 694-697

ISSN: 0046-8177

Editora: Elsevier

Indexação

ISI Web of Knowledge - 81 Citações

Scopus - 91 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina básica

Outras Informações

ID Authenticus: P-000-30S

DOI: 10.1016/j.humpath.2005.04.011

Abstract (EN): BRAF gene mutations have been frequently detected in papillary thyroid carcinoma (PTC). Moreover, there is a close association between the type of mutation and the PTC histotype: BRAF(V600E) is associated with conventional PTC and with histological variants of PTC displaying a prominent papillary growth pattern, whereas BRAF(K601E) is associated with the follicular variant of PTC. We report the detection of a novel BRAF triplet deletion in a case of PTC displaying a predominantly solid growth pattern. The deletion leads to the replacement of a valine and a lysine by a glutamate in the BRAF activation segment (BRAF(VK600-1E)), thus mimicking partially the 2 BRAF mutations previously described. Our study reinforces the existence of a close relationship between the occurrence of some types of BRAF mutation and some PTC histotypes. The genetic study of more cases of the solid variant of PTC is necessary to find whether there exists a significant association between the occurrence of BRAF(VK600-1E) and such PTC histotype.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4