The use of molecular-genetic testing of BRAFV600E mutation for fine-needle aspiration cytology of thyroid gland
Relevance. The growing interest to non-invasive methods of early preoperative verification of thyroid tumours requires further refinement of the traditional morphological methods of thyroid tumour diagnostics using molecular-genetic studies. The detection of BRAF genetic mutation in the material under study is a decisive additional method at this stage. According to foreign researchers, the BRAF gene mutation is most frequent in papillary thyroid cancer. BRAF mutation was found in 38-69% samples of histological material of patients operated for thyroid cancer. It was also found in up to 83% of cases in Fine Needle Aspiration (FNA)-washouts from the syringe and puncture needles obtained from patients with papillary thyroid cancer. No literature data from Kazakhstani researchers could be found regarding BRAF gene mutation detected in FNA biopsy materials in papillary thyroid cancer. Purpose of the study is to identify the significance of BRAF mutation among Kazakhstani patients with nodular goiter to exclude papillary thyroid gland cancer. Results. According to PCR in the form of dispersion of amplification products, positive BRAF gene mutations were detected in patients with diagnosed or suspected papillary cancer. The graphical characteristics were reflected on tracks H01, A03, B03, and C03. Track F03 shows the internal control for BRAF gene positive mutation. Other relevant columns were negative for BRAF gene mutations. Conclusions. The detection of BRAF gene mutation in washouts from the puncture needle obtained from patients with thyroid nodules can be used in preoperative diagnostics for prognosis and treatment of papillary thyroid cancer.