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International Journal of Endocrinology
Volume 2015, Article ID 138734, 7 pages
http://dx.doi.org/10.1155/2015/138734
Research Article

BRAF Mutations in an Italian Regional Population: Implications for the Therapy of Thyroid Cancer

1Department of Internal Medicine, Endocrinology Unit, IRCCS IST Azienda Ospedaliera Universitaria “San Martino”, Largo R. Benzi, No. 10, 16132 Genoa, Italy
2Department of Pathology, Molecular Diagnostic Unit, IRCCS IST Azienda Ospedaliera Universitaria “San Martino”, Largo R. Benzi, No. 10, 16132 Genoa, Italy
3Department of Surgery, Endocrinology Surgery Unit, IRCCS IST Azienda Ospedaliera Universitaria “San Martino”, Largo R. Benzi, No. 10, 16132 Genoa, Italy

Received 27 August 2015; Revised 27 October 2015; Accepted 28 October 2015

Academic Editor: Alexander Schreiber

Copyright © 2015 Eleonora Monti et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background. Molecular diagnostics has offered new techniques for searching for mutations in thyroid indeterminate lesions. The study’s aim was to evaluate the BRAF mutations’ incidence in an Italian regional population. Subjects and Methods. 70 Caucasian patients born in Liguria with indeterminate or suspicious cytological diagnoses. Results. A BRAF gene mutation was successfully analyzed in 56/70 patients. The mutation was BRAF V600E in 12/56 cases (21%) and BRAF K601E in 2/56 (4%). Of the BRAF mutated samples on cytological diagnosis (14/56 cases), 2/14 cases (14%) were benign on final histology and 12/14 (86%) were malignant. All BRAF-mutated cases on cytology that were found to be benign on histological examination carried the K601E mutation. Of the nonmutated BRAF cases (42/56, 75%) which were later found to be malignant on definitive histology, 5 cases were follicular carcinomas (36%), 3 cases were incidentally found to be papillary microcarcinomas (22%), 2 were cases papillary carcinomas (14%), 1 was case follicular variant of papillary carcinoma (7%), 1 was case medullary carcinoma (7%), 1 case was Hurtle cell tumor (7%), and 1 case was combined cell carcinoma and papillary oncocytic carcinoma (7%). Conclusions. The presence of the BRAF V600E mutation may suggest a more aggressive surgical approach. BRAF K601E mutation did not correlate with malignancy indexes.