Comparative efficiency of differential diagnostic methods for the identification of BRAF V600E gene mutation in papillary thyroid cancer (Review)

Abstract

V-Raf murine sarcoma viral oncogene homolog B1 (BRAF) encodes a serine-threonine kinase. The V600E point mutation in the BRAF gene is the most common mutation, predominantly occurring in melanoma, and colorectal, thyroid and non-small cell lung cancer. Particularly in the context of thyroid cancer research, it is routinely employed as a molecular biomarker to assist in diagnosing and predicting the prognosis of papillary thyroid cancer (PTC), and to formulate targeted therapeutic strategies. Currently, several methods are utilized in clinical settings to detect BRAF V600E mutations in patients with PTC. However, the sensitivity and specificity of various detection techniques vary significantly, resulting in diverse detection outcomes. The present review highlights the advantages and disadvantages of the methods currently employed in medical practice, with the aim of guiding clinicians and researchers in selecting the most suitable detection approach for its high sensitivity, reproducibility and potential to develop targeted therapeutic regimens for patients with BRAF gene mutation-associated PTC.

Keywords: V-Raf murine sarcoma viral oncogene homolog B1 V600E gene; diagnostic method; mutation; papillary thyroid cancer.

Figure 1

BRAF gene signaling pathway. Normal pathway: RAF kinase, a protein encoded by BRAF, can activate downstream MEK through phosphorylation. The MAPK/ERK signaling pathway can regulate cell proliferation, differentiation, migration and apoptosis. BRAF gene mutated pathway: BRAF remains active if a pathogenic mutation occurs, which can lead to the continuous activation of RAF protein, which in turn continuously transmits signals to its downstream pathway when no chemical signal is received, thus resulting in uncontrolled cell proliferation. V600E is a common carcinogenic gene mutation site. BRAF, V-Raf murine sarcoma viral oncogene homolog B1; FGF, fibroblast growth factor; HRG, histidine-rich glycoprotein; EGF, epidermal growth factor; Her2, human epidermal growth factor receptor 2.