The usefulness of a novel fully automated PCR-based Idylla test for detection of the BRAF V600E mutation in thyroid tissue: comparison with PNA-clamping PCR, real-time PCR and pyrosequencing

作者：Yeo Min Kyung; Jung Min Kyu; Lee Su Yel; Lee Yong Moon; Hur Gang Min^*; Kim Jin Man^*

来源：Journal of Clinical Pathology, 2017, 70(3): 260-264.

DOI：10.1136/jclinpath-2016-204025

• THYROID
• MOLECULAR PATHOLOGY
• ENDOCRINE PATHOLOGY

Introduction The BRAF V600E mutation is the most common genetic event in papillary thyroid carcinoma (PTC). The BRAF V600E mutational status has a significant diagnostic and prognostic role in PTC since it can be detected in 32%-87% of PTC by various molecular methods.
Aim(s) A novel, fully automated real-time PCR-based Idylla test is assessed to detect the BRAF mutation in formalin-fixed paraffin-embedded (FFPE) thyroid samples.
Methods 99 PTC and 11 nodular hyperplasia FFPE thyroid tissues are evaluated for the BRAF V600E mutation by the Idylla tests and compared with peptide nucleic acid-clamping PCR, real-time PCR and pyrosequencing.
Results The sensitivity and specificity of the Idylla test to detect BRAF V600E are 98.8% and 100%, which is superior to real-time PCR and pyrosequencing. The concordance between Idylla and true positive is highest at 0.974.
Conclusions This study validates that the Idylla test is a sensitive and specific method to detect BRAF V600E in FFPE thyroid tissues. A simple, quick and easy to handle Idylla test is a useful and reliable molecular technique to evaluate BRAF mutations.

• 出版日期2017-3