A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer

摘要: The optimal method for BRAF mutation detection remains to be determined despite advances in molecular techniques. aim of this study was compare, against classical Sanger sequencing, the diagnostic performance two most recently developed, highly sensitive methods: V600E immunohistochemistry (IHC) and peptide nucleic-acid (PNA)-clamp qPCR. exon 15 mutations were searched formalin-fixed paraffin-embedded tissues from 86 papillary thyroid carcinoma using three methods. limits sequencing borderline or discordant cases quantified by next generation sequencing. found 74.4 % PNA, 71 % IHC, 64 % Complete concordance methods observed 80 % samples. Better with combination methods, particularly PNA IHC (59/64) (92 %), while concordant 55 (86 %). Sensitivity 99 % 94.2 % 89.5 % Sanger. Our data show that could used as a cost-effective, first-line daily practice, followed analysis negative uninterpretable cases, efficient method. PNA-clamp quantitative PCR is complementary it also recognizes other besides suitable purposes.