Detection of BRAF mutation on fine needle aspiration biopsy specimens: Diagnostic and clinical implications for papillary thyroid cancer

Objective: To detect the BRAF mutation on fine needle aspiration biopsy (FNAB) specimens in papillary thyroid cancer (PTC). Study Design: Eight fresh FNAB specimens and 10 patients' FNAB slides with cytologic examination were examined for the presence of BRAF V600E mutation by direct DNA sequencing. Results: Genomic DNA was all successfully extracted from both fresh FNAB specimens and patients' FNAB slides. Moreover, BRAF V600E mutation was detected in 2 of 8 fresh FNAB specimens and 6 of 10 patients' FNAB slides. Conclusion: We demonstrated for the first time that it is feasible to detect a BRAF mutation from a small number of fresh FNAB specimens or slides in China, suggesting that detection of BRAF mutation on FNAB samples is useful not only for preoperative diagnosis of PTC but also for accurate pathologic diagnosis and prognosis.