Jeong Dongjun, Jeong Yujun, Lee Sungche, Lee Hyeran, Lee Wanju, Kim Hyungjoo, Park Doosan, Park Soyoung, Mu Wenxia, Cho Hyun-Deuk, Oh Mee-Hye, Lee Sung Soo, Yang Seung-Ha, Kim Chang-Jin
Department of Pathology, Soonchunhyang University College of Medicine, Cheonan, Korea.
Korean J Pathol. 2012 Feb;46(1):61-7. doi: 10.4132/KoreanJPathol.2012.46.1.61. Epub 2012 Feb 23.
Papillary thyroid carcinoma (PTC) of the thyroid is the most common endocrine malignancy. High prevalence of an activating point mutation of BRAF gene, BRAF(V600E), has been reported in PTC. We assessed the efficiency of peptide nucleic acid clamp real-time polymerase chain reaction (PNAcqPCR) for the detection of BRAF(V600E) mutation in PTC in comparison with direct sequencing (DS).
A total of 265 thyroid lesions including 200 PTCs, 5 follicular carcinomas, 60 benign lesions and 10 normal thyroid tissues were tested for BRAF(V600E) mutation by PNAcqPCR and DS.
The sensitivity and accuracy of the PNAcqPCR method were both higher than those of DS for the detection of the BRAF(V600E) mutation. In clinical samples, 89% of PTCs harbored the BRAF(V600E) 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.
The PNAcqPCR method is efficiently applicable for the detection of the BRAF(V600E) mutation in PTCs in a clinical setting.
甲状腺乳头状癌（PTC）是最常见的内分泌恶性肿瘤。据报道，PTC中BRAF基因激活点突变BRAF(V600E)的发生率很高。我们评估了肽核酸钳实时聚合酶链反应（PNAcqPCR）与直接测序（DS）相比，在检测PTC中BRAF(V600E)突变方面的效率。
通过PNAcqPCR和DS对总共265个甲状腺病变进行BRAF(V600E)突变检测，其中包括200个PTC、5个滤泡癌、60个良性病变和10个正常甲状腺组织。
在检测BRAF(V600E)突变方面，PNAcqPCR方法的灵敏度和准确性均高于DS。在临床样本中，89%的PTC存在BRAF(V600E)突变，而5个滤泡癌、50个良性病变和10个正常甲状腺组织未发生该突变。该突变与甲状腺外侵犯（p=0.015）、淋巴结转移（p=0.002）和多灶性肿瘤（p=0.016）等侵袭性临床行为相关，具有统计学意义。
PNAcqPCR方法可有效应用于临床环境中PTC中BRAF(V600E)突变的检测。
