Detection of BRAF gene mutation in preoperative diagnostic of thyroid gland cancer
Semyonov Dmitriy, Zarayskiy Mikhail, Boriskova Marina, Saburova Irina & Farafonova Ulyana
Purpose: To assess the utility of BRAFV600E mutation detection in preoperative thyroid cancer diagnostic.
Materials and methods: We studied 46 aspirates taken by FNA from patients with thyroid gland nodes. Thyroid tissue aspirates DNA was extracted by sorbent method. BRAF gene mutation was analyzed with primers specific for wild and mutant gen type by RT-PCR.
Results: All patients were divided into three groups by cytological conclusions: colloid nodules (9), PTC (19), and suspicious for malignancy (18). In the group of patients with PTC all diagnoses were confirmed by histology, and BRAF gene mutation was detected in 15 (79%) FNAB specimens. In the group with suspicious cytological diagnosis only one patient had follicular cancer by histology and positive BRAF mutation. There were detected no BRAF mutation in 16 patients with histologically proven follicular adenoma, in nine patients with colloid nodular goiter and in one patient with follicular cancer. Thereby, we received the following criteria valuers of methods reliability: sensitivity 76%, specificity 100%, diagnostic accuracy 89%.
Conclusions: Detection of the BRAFV600E mutation may be a useful adjunct marker for preoperative diagnostic of thyroid gland cancer.