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J Clin Pathol. 2017 Mar;70(3):260-265. doi: 10.1136/jclinpath-2016-204025. Epub 2016 Aug 19.

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.

Author information

1
Department of Pathology and Medical Science, Chungnam National University School of Medicine, Daejeon, Korea.
2
Biobank of Chungnam National University Hospital, Daejeon, Korea.
3
Department of Pharmacology, Chungnam National University School of Medicine, Daejeon, Korea.

Abstract

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.

AIMS:

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.

KEYWORDS:

ENDOCRINE PATHOLOGY; MOLECULAR PATHOLOGY; THYROID

PMID:
27543599
DOI:
10.1136/jclinpath-2016-204025
[Indexed for MEDLINE]

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