Korean J Pathol.  2012 Feb;46(1):61-67. 10.4132/KoreanJPathol.2012.46.1.61.

Detection of BRAFV600E Mutations in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-Time PCR: A Comparison with Direct Sequencing

Affiliations
  • 1Department of Pathology, Soonchunhyang University College of Medicine, Cheonan, Korea. cjkim@sch.ac.kr
  • 2Senior Undergraduate, Soonchunhyang University College of Medicine, Cheonan, Korea.
  • 3College of Medical Sciences, Soonchunhyang University, Asan, Korea.
  • 4Department of Preventive Medicine, Soonchunhyang University College of Medicine, Cheonan, Korea.

Abstract

BACKGROUND
Papillary thyroid carcinoma (PTC) of the thyroid is the most common endocrine malignancy. High prevalence of an activating point mutation of BRAF gene, BRAFV600E, has been reported in PTC. We assessed the efficiency of peptide nucleic acid clamp real-time polymerase chain reaction (PNAcqPCR) for the detection of BRAFV600E mutation in PTC in comparison with direct sequencing (DS).
METHODS
A total of 265 thyroid lesions including 200 PTCs, 5 follicular carcinomas, 60 benign lesions and 10 normal thyroid tissues were tested for BRAFV600E mutation by PNAcqPCR and DS.
RESULTS
The sensitivity and accuracy of the PNAcqPCR method were both higher than those of DS for the detection of the BRAFV600E mutation. In clinical samples, 89% of PTCs harbored the BRAFV600E mutation, whereas 5 follicular carcinomas, 50 benign lesions and 10 normal thyroid tissues lacked the mutation. The mutation was associated with aggressive clinical behaviors as extrathyroid invasion (p=0.015), lymph node metastasis (p=0.002) and multiple tumor numbers (p=0.016) with statistical significance.
CONCLUSIONS
The PNAcqPCR method is efficiently applicable for the detection of the BRAFV600E mutation in PTCs in a clinical setting.

Keyword

Thyroid; Thyroid cancer, papillary; BRAF; Peptide nucleic acids

MeSH Terms

Carcinoma
Factor IX
Lymph Nodes
Neoplasm Metastasis
Peptide Nucleic Acids
Point Mutation
Prevalence
Real-Time Polymerase Chain Reaction
Thyroid Gland
Thyroid Neoplasms
Carcinoma
Factor IX
Peptide Nucleic Acids
Thyroid Neoplasms
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