title: BRAF (V600E) mutation analysis in papillary thyroid carcinomas by peptide nucleic acid clamp real-time PCR.
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.
authors.affiliation: Department of Pathology, Soonchunhyang University College of Medicine, Cheonan City, Republic of Korea.
authors.forename: Dongjun
authors.initials: D
authors.lastname: Jeong
authors.forename: Yujun
authors.initials: Y
authors.lastname: Jeong
authors.forename: Ji Hye
authors.initials: JH
authors.lastname: Park
authors.forename: Sun Wook
authors.initials: SW
authors.lastname: Han
authors.forename: Sung Yong
authors.initials: SY
authors.lastname: Kim
authors.forename: Yeo Joo
authors.initials: YJ
authors.lastname: Kim
authors.forename: Sang Jin
authors.initials: SJ
authors.lastname: Kim
authors.forename: Young
authors.initials: Y
authors.lastname: Hwangbo
authors.forename: Soyoung
authors.initials: S
authors.lastname: Park
authors.forename: Hyun Deuk
authors.initials: HD
authors.lastname: Cho
authors.forename: Mee Hye
authors.initials: MH
authors.lastname: Oh
authors.forename: Seung Ha
authors.initials: SH
authors.lastname: Yang
authors.forename: Chang Jin
authors.initials: CJ
authors.lastname: Kim
mesh_terms: D002291:Carcinoma, Papillary / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D020135:Peptide Nucleic Acids; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D004273:DNA, Neoplasm; D020135:Peptide Nucleic Acids; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf