Abstract

Purpose: In various studies low telomerase activity have been shown to have a protective role in some types of cancer. Patients with neurofibromatosis type-1 (NF1) are at risk of developing certain types of cancer. Prognosis is generally better in patients with NF1 than those without NF1. In the present study, we aimed to measure telomerase activity in patients with NF1 and in controls.Materials and Methods: Telomerase activity was investigated in peripheral blood samples with human telomerase reverse transcriptase (hTERT) mRNA by using real time reverse transcriptase polymerase chain reaction (RT-PCR) method and Light Cycler 480 system.Results: hTERT expression was investigated in blood samples of 48 patients with a diagnosis of NF1 and in 37 controls. Telomerase activity was positive in 36 of 48 (75%) patients with NF1 and 23 of 37 patients (73%) without NF1. Telomerase activity was positive in 31 of 36 patients (86%) with NF1 having a benign or malignant tumor, whereas it was positive in 5 of 12 NF1 patients (41.6%) without a tumor. Conclusion: Detection of hTERT expression in patients with NF1 can be used as a useful marker for tumorigenesis. Additional studies need to be done to know whether detection of hTERT expression in low-grade tumors would help predict progression to high-grade tumors.

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