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

• DOI: 10.3892/mmr.2017.6590
• Publication Date: 2017-05-17T03:30:51Z
• Authors: Wojciech Barczak; Wiktoria M. Sucho...; Agnieszka Sobecka; Karolina Bednarowicz; Piotr Machczynski; Pawel Golusinski; Blazej Rubis; Michal M. Masternak; Wojciech Golusinski
• Keywords: Adult; Male; 0301 basic medicine; DNA Mutational Analysis; 03 medical and health sciences; Biomarkers, Tumor; Humans; Head and neck cancer; Promoter Regions, Genetic; Telomerase; Alleles; Aged; Neoplasm Staging; Aged, 80 and over; 0303 health sciences; Telomere length; Molecular markers; Telomere Homeostasis; Middle Aged; Telomere; 3. Good health; Telomerase reverse transcriptase promoter mutation; Head and Neck Neoplasms; Mutation; Disease Progression; Female

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.