BRAF V600E and TERT Promoter Mutations in Papillary Thyroid Carcinoma in Chinese Patients

PLoS One. 2016 Apr 11;11(4):e0153319. doi: 10.1371/journal.pone.0153319. eCollection 2016.

Abstract

Background: The BRAF V600E and telomerase reverse transcriptase (TERT) promoter mutations have been reported in papillary thyroid carcinoma (PTC). The aim of this retrospective cross-sectional study was to add further information regarding the prevalence of the BRAF V600E and TERT promoter mutations in Chinese PTC and their clinicopathological associations.

Methods: We detected the BRAF V600E mutation and TERT promoter mutations in 455 Chinese PTC patients and analyzed the association of these mutations with several clinicopathological features.

Results: The BRAF V600E mutation was detected in 343 (75.4%) of 455 cases and was significantly associated with older age (p<0.001) and conventional subtype (p = 0.003). TERT promoter mutations were detected in 19 (4.4%) of 434 PTCs and were associated with older age (p<0.001), larger tumor size (p = 0.024), and advanced TNM stage(p<0.001). Of the 19 patients that were positive for TERT promoter mutations, 18 (94.7%) also harbored the BRAF V600E mutation.

Conclusion: We determined the prevalence and clinicopathological associations of BRAF V600E and TERT promoter mutations in Chinese PTC patients. TERT promoter mutations but not the BRAF V600E mutation were associated with more advanced TNM stage upon diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People / genetics*
  • Carcinoma / genetics*
  • Carcinoma / pathology
  • Carcinoma, Papillary
  • Child
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Promoter Regions, Genetic / genetics*
  • Proto-Oncogene Proteins B-raf / genetics*
  • Retrospective Studies
  • Telomerase / genetics*
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology
  • Young Adult

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • TERT protein, human
  • Telomerase

Grants and funding

The present study was funded by Beijing Key Laboratory of Head and Neck Molecular Diagnostic Pathology. The funder does not have a website. The funder had no role in study design, date collection and analysis, decision to publish, or preparation of the manuscript.