Abstract

Aims: A single hotspot mutation at nucleotide 1799 of the BRAF gene has been identified as the most common genetic event in papillary thyroid carcinoma (PTC), with a prevalence of 29-83%. The objective of this study was to use a polymerase chain reaction (PCR) assay to molecularly characterize the BRAF activating point mutation in a series of PTC and benign thyroid cases and correlate the mutation results with histologic findings.

Methods: Formalin fixed paraffin embedded (FFPE) sections were evaluated for the BRAF V600E mutation using LightCycler PCR with allele-specific fluorescent probe melting curve analysis (LCPCR).

Results: A total of 42 (37 = PTC; 5 = benign) surgical tissue samples were analyzed for the BRAF V600E activating point mutation. Using LCPCR and direct DNA sequencing, the BRAF mutation was identified in 23/37 (62.2%) PTC FFPE samples. DNA sequencing results demonstrated confirmation of the mutation.

Conclusions: Detection of BRAF-activating mutations in PTC suggests new approaches to management and treatment of this disease that may prove worthwhile. Identification of the BRAF V600E activating mutation in routine FFPE pathology samples by a rapid laboratory method such as LCPCR could have significant value.