ECE2015 Eposter Presentations Thyroid (non-cancer) (160 abstracts)
The role of detecting BRAF T199A mutation in fine-needle aspiration biopsy in pre-operative diagnosis of nodular goitre
Anhelli Syrenicz 1 , Monika Koziolek 1 , Bartosz Kiedrowicz 1 , Milosz Parczewski 2 , Maria Stepaniuk 3, , Elzbieta Andrysiak-Mamos 1 , Joanna Obloza 4 , Anna Sieradzka 1 & Agnieszka Binczak-Kuleta 5
1Department of Endocrinology, Metabolic Diseases and Internal Diseases, Pomeranian Medical University, Szczecin, Poland; 2Department of Infectious Diseases, Hepatology and Immune Deficiency, Pomeranian Medical University, Szczecin, Poland; 3Department of Pathology, Pomeranian Medical University, Szczecin, Poland; 4Department of Endocrinology, M.Curie Regional Hospital, Szczecin, Poland; 5Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland; 6Westpomeranian Oncology Center, Szczecin, Poland.
Introduction: Molecular testing play increasingly a significant role in pre-operative diagnosis of nodular goiter, as standard methods may not give conclusive decision in choosing optimal treatment approach. BRAF gene mutations are often discovered in the cytological specimens among the patients with papillary thyroid cancer. The aim of the study was to assess the incidence of BRAF T1799A mutation in cellular specimens derived from fine needle aspiration biopsy (FNAB) of thyroid nodules.
Material/methods: 85 women with nodular goiter were enrolled into the study. Using hormonal tests, autoantibodies and ultrasound, both hormonal thyroid dysfunction and autoimmune process were excluded. All the patients underwent FNAB of revealed nodules. We analyzed genomic DNA isolated from the thyroid lesions and peripheral blood. Standard methods of real-time amplification detection (real-time PCR) were used to analyze BRAF mutation, with the use of specific starters surrounding the mutated site.
Results: We found BRAF T1799A mutation in thyroid specimens of 6 (7.05%) subjects. In five of them, benign nature of the thyroid nodules was confirmed by FNAB of the lesions. This procedure was non-diagnostic in one subject and histopathology post-operative assessment confirmed papillary thyroid cancer.
Conclusion: The presence of BRAF mutation in FNAB cytological specimens of benign thyroid nodules may be useful to evaluate the risk of malignancy, support the diagnosis and choose treatment options of nodular goitre.
Disclosure: This work was supported by the Ministry of Science and Higher Education, Republic of Poland (grant number N N402466739).
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Endocrine Abstracts
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