KMID : 0357920120460010061
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Korean Journal of Pathology 2012 Volume.46 No. 1 p.61 ~ p.67
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Detection of BRAFV600E Mutations in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-Time PCR: A Comparison with Direct Sequencing
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Jeong Dong-Jun
Jeong Yu-Jun Lee Sung-Che Lee Hye-Ran Lee Wan-Ju Kim Hyung-Joo Park Doo-San Park So-Young Mu Wenxia Cho Hyun-Deuk Oh Mee-Hye Lee Sung-Soo Yang Seung-Ha Kim Chang-Jin
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Abstract
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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.
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KEYWORD
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Thyroid, Thyroid cancer, papillary, BRAF, Peptide nucleic acids
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