Clinicopathological significance of TERT promoter mutation in papillary thyroid carcinomas: a systematic review and meta-analysis

Clin Endocrinol (Oxf). 2016 Aug;85(2):299-305. doi: 10.1111/cen.13017. Epub 2016 Feb 8.

Abstract

Background: The prognostic value of the telomerase reverse transcriptase (TERT) promoter mutation, resulting in poor clinical outcomes of papillary thyroid carcinoma (PTC), has been generally confirmed. To data, there is no high-level evidence approving the association of TERT promoter mutation and aggressive clinical behaviours in PTC. To systematically evaluate it, a systematic review and meta-analysis of the published literatures were carried out.

Methods: We conducted a systematic search in PubMed, EMBASE, OVID and Web of Science databases for relevant studies. We selected all the studies that reported clinicopathological features of PTC patients with information available on TERT promoter mutation status. Individual study-specific odds ratios (ORs) and 95% confidence intervals (CIs) were calculated, as were Mantel-Haenszel pooled odds ratios for the combined studies.

Results: Eight eligible trials involved 2035 patients were included in the analysis. The average prevalence of the TERT promoter mutation was 10·32%. Compared with the wild-type TERT promoter gene, the TERT promoter mutation was associated with male gender, lymph node metastasis, extrathyroidal extension, distant metastasis, advanced TNM stage III/IV, poor clinical outcome (persistence or recurrence) and mortality. The associations were generally consistent across the different study populations.

Conclusions: Thus, our findings from this large meta-analysis definitively demonstrate that TERT promoter mutation-positive PTC is more likely to manifest with aggressive clinicopathological characteristics. In appropriate clinical settings, testing for the TERT promoter mutation is likely to be useful in assisting the risk stratification and management of PTC.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Carcinoma / diagnosis
  • Carcinoma / genetics*
  • Carcinoma, Papillary
  • Humans
  • Mutation
  • Prognosis
  • Promoter Regions, Genetic
  • Risk Assessment
  • Telomerase / genetics*
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms / diagnosis
  • Thyroid Neoplasms / genetics*

Substances

  • Telomerase