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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
  1. Min-Kyung Yeo1,
  2. Min-Kyu Jung1,
  3. Su-Yel Lee2,
  4. Yong-Moon Lee1,
  5. Gang Min Hur3,
  6. Jin-Man Kim1
  1. 1Department of Pathology and Medical Science, Chungnam National University School of Medicine, Daejeon, Korea
  2. 2Biobank of Chungnam National University Hospital, Daejeon, Korea
  3. 3Department of Pharmacology, Chungnam National University School of Medicine, Daejeon, Korea
  1. Correspondence to Dr Jin-Man Kim, Department of Pathology, Chungnam National University School of Medicine, 6 Munwha-Dong Jung-Gu, Daejeon 301-131, Korea; jinmank{at}cnu.ac.kr and Gang Min Hur, M.D. Ph.D. Department of Pharmacology, Chungnam National University School of Medicine, 6 Munwha-Dong Jung-Gu, Daejeon, 301-131, Korea; gmhur{at}cnu.ac.kr

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.

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.

  • THYROID
  • MOLECULAR PATHOLOGY
  • ENDOCRINE PATHOLOGY

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