ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2016) 40 P3 | DOI: 10.1530/endoabs.40.P3

Prevalence of BRAF V600E mutation in Romanian thyroid tumors patients

Sorina Schipor1, Dana Manda1, Suzana Vladoiu1, Andra Caragheorgheopol1, Cosmin Giulea2, Diana-Mirela Ilie2 & Corin Badiu2

1National Institute of Endocrinology “C. I. Parhon”, Bucharest, Romania; 2University of Medicine and Pharmacy “Carol Davila”, Bucharest, Romania.

Introduction: BRAF V600E mutation is reported to occur in 28–83% of papillary thyroid cancer, being associated with increased tumour aggressiveness.

Objective: To determine the prevalence of BRAF V600E mutation in Romanian patients with thyroid nodules referred to surgery in a reference endocrinology centre.

Materials and methods: 140 patients were included in the study: 70 patients with papillary thyroid carcinoma (PTC), 42 patients with follicular adenoma, 22 patients with hyperplastic thyroid nodule and six patients with autoimmune thyroiditis. DNA was isolated from thyroid tissue using PureLink Genomic DNA Kits (Invitrogen, Life Technologies). BRAF V600E mutation was determined by PCR-RFLP using TspRI as restriction enzyme and confirmed by sequencing on Beckman Coulter CEQ8000 genetic analyser. Patients were enrolled after they gave their informed consent.

Results: Patients with PTC were divided into following histological subtypes: Classical PTC – 27 patients, PTC ‘follicular variant’ – 35 patients, aggressive forms – eight patients. BRAF V600E analysis was done in all enrolled patients. We did not find this mutation in patients with follicular adenoma, hyperplastic thyroid nodule or thyroiditis. In PTC group we found 10/70 mutations (14.28%): 8/27 (29.63%) in classical PTC and 2/8 (25%) in the histological aggressive forms. There were no mutations in PTC follicular variant.

Conclusion: BRAF V600E prevalence in Romanian patients varies depending on the histological type of the tumour. Overall BRAF V600E prevalence in our classic PTC group (including aggressive phenotype) was 28.57%.

Acknowledgement: This study was founded by MEN-UEFISCDI PCCA2 grant number 135/2012.

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