Published in:
01-03-2013 | Endocrine Tumors
BRAF
V600E Mutation Analysis in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-time PCR
Authors:
Dongjun Jeong, PhD, Yujun Jeong, MS, Ji Hye Park, MD, Sun Wook Han, MD, Sung Yong Kim, MD, PhD, Yeo Joo Kim, MD, PhD, Sang Jin Kim, MD, PhD, Young Hwangbo, MD, PhD, Soyoung Park, MS, Hyun Deuk Cho, MD, PhD, Mee Hye Oh, MD, PhD, Seung Ha Yang, MD, PhD, Chang Jin Kim, MD, PhD
Published in:
Annals of Surgical Oncology
|
Issue 3/2013
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ABSTRACT
Background
Activating somatic mutation of the BRAF
V600E has been identified as the most common genetic event in papillary thyroid carcinoma (PTC) with a variable frequency (32–87 %) in different series by different methods. The BRAF
V600E mutation is associated with various clinicopathological parameters. The mutation is an important factor for the management of the PTC patients. The objective of this study was to detect the BRAF
V600E mutation in PTCs by peptide nucleic acid (PNA) clamp real-time PCR and to analyze the results with clinicopathological parameters.
Methods
We performed genetic analysis of BRAF
V600E by PNA clamp real-time PCR in 211 PTCs in Korea, stratified by clinicopathological parameters.
Results
The BRAF
V600E mutation was detected in 90 % of PTC cases, and it occurred significantly more often in female patients than in male patients (p = 0.001). The clinicopathological parameters of age, tumor size, and disease stage were not associated with the BRAF
V600E mutation, while extrathyroid invasion (p = 0.031), lymph nodal metastasis (p = 0.002), and tumor multiplicity (p = 0.020) were.
Conclusions
The prevalence (90 %) of the BRAF
V600E mutation in this study is the highest ever reported, confirming the key role of this mutation in PTC tumorigenesis. The BRAF
V600E mutation was associated with aggressive clinical behaviors including extrathyroid invasion, lymph nodal metastasis and tumor multifocality. The PNA clamp real-time PCR method for the BRAF
V600E mutation detection is sensitive and is applicable in a clinical setting.