BRAF mutations are associated with some histological types of papillary thyroid carcinoma

• Type: Article in International Scientific Journal
• Date: 2004

Authors

Trovisco, V (Author) Other; de Castro, IV (Author) Other; Soares, P (Author) FMUP; Maximo, V (Author) Other; Silva, P (Author) Other; Magalhaes, J (Author) Other; Abrosimov, A (Author) Other; Guiu, XM (Author) Other; Sobrinho Simoes, M (Author) FMUP

Journal

Title: Journal of Pathology

Vol. 202

Pages: 247-251

ISSN: 0022-3417

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 298 Citations

Scopus - 330 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-000-BTH

DOI: 10.1002/path.1511

Abstract (EN): Mutations in the BRAF gene have recently been detected in a wide range of neoplastic lesions with a particularly high prevalence in melanoma and papillary thyroid carcinoma (PTC). The hot-spot mutation BRAF(V599E) is frequently detected in PTC (36-69%), in contrast to its absence in other benign or malignant thyroid lesions. In order to unravel whether there is any association between the occurrence of the BRAF mutation and the histological pattern of PTC, in this study a previous series of 50 PTCs was extended to 134 cases, including ten cases of PTC-related entities - hyalinizing trabecular tumour (HTT) and mucoepidermoid carcinoma (MEC). Using PCR/SSCP and sequencing, the BRAF(V599E) mutation was detected in 45 of the 124 PTCs (36%). No mutations were detected in any case of HTT and MEC. BRAF(V599E) was present in 75% of Warthin-like PTCs and 53% of conventional PTCs, whereas no BRAF(V599E) mutations were detected in any of the 32 cases of the follicular variant of PTC. BRAF(V599E) was also detected in 6 of 11 cases of the oncocytic variant of PTC that displayed a papillary or mixed follicular-papillary growth pattern and in none of the four oncocytic PTCs with a follicular growth pattern. A distinct mutation in BRAF (codon K600E) was detected in three cases of the follicular variant of PTC. This study has confirmed the high prevalence of BRAF(V599E) in PTC and has shown that the mutation is almost exclusively seen in PTC with a papillary or mixed follicular-papillary growth pattern, regardless of the cytological features of the neoplastic cells. The results support the existence of an oncocytic variant of PTC that should be separated from the oncocytic variant of follicular carcinoma and suggest that the follicular variant of PTC may be genetically different from conventional PTC. Copyright (C) 2004 John Wiley Sons, Ltd.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5