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

• Type: Article in International Scientific Journal
• Date: 2005

Authors

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

Journal

Title: Human Pathology

Vol. 36

Pages: 694-697

ISSN: 0046-8177

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 81 Citations

Scopus - 91 Citations

Scientific classification

FOS: Medical and Health sciences > Basic medicine

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4