hTERT C250T promoter mutation and telomere length as a molecular markers of cancer progression in patients with head and neck cancer

Mol Med Rep. 2017 Jul;16(1):441-446. doi: 10.3892/mmr.2017.6590. Epub 2017 May 17.


Squamous cell carcinoma of the head and neck (HNSCC) is the sixth leading cause of cancer worldwide, representing over half a million incidents every year. Cancer cells, including HNSCC, are characterized by increased telomerase activity. This enzymatic complex is active in ~90% of all cancer types and is responsible for the lengthening of telomeres. Highly recurrent point mutations in the human telomerase reverse transcriptase (hTERT) promoter have recently been reported in a number of human neoplasms. The aim of the present study was to analyze the prevalence of the hTERT promoter C250T mutation and telomere length in the blood leukocytes of 61 patients with HNSCC and 49 healthy individuals. Quantitative polymerase chain reaction identified the hTERT promoter mutation in 36% of patients with HNSCC. To the best of our knowledge this is first report indicating the presence of shorter telomeres in early stage tumors. In addition, the results suggest that the C250T hTERT promoter mutation and telomere length assessment may serve as important molecular markers of HNSCC progression.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Biomarkers, Tumor*
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / pathology*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Staging
  • Promoter Regions, Genetic*
  • Telomerase / genetics*
  • Telomere / genetics*
  • Telomere / metabolism
  • Telomere Homeostasis*


  • Biomarkers, Tumor
  • TERT protein, human
  • Telomerase