IDH2 ve tert gen varyasyonlarının etkisinin prostat kanserinde araştırılması

Worldwide, prostate cancer is the leading cause of death from cancer in males. It is still a chemotherapy-resistant disease with a highly metastatic potential, despite its pathological classification and the availability of numerous treatments because its molecular foundation has not yet been completely understood. The primary objective of this research was to use next-generation sequencing technology to identify variations in the IDH2 and TERT target genes in prostate cancer. For the study, blood samples from 27 patients at Yeditepe University Hospital who had been identified with prostate cancer were used. The mean age of the study population was 68 years of age; 88.89% of them were 60 years and older, and 11.11% were individuals under 60 years of age. The mean prostate volume and PSA level for the patient with prostate cancer were 43.59 cc and 31.28 ng/mL, respectively, according to clinical data. It was determined that there were fourteen patients with a Gleason score of less than seven and thirteen patients with a Gleason score of seven or higher. The IDH2 and TERT genes were examined using next-generation sequencing and five mutations were identified. One of these mutations was discovered in the IDH2 gene and four others within the TERT gene. One variant detected in IDH2 was seen in 2 heterozygous patients. Four variants located in the exonic region of the TERT gene have been identified. Of these, c.3039C>T mutation was heterozygous in 6 patients, c.1392 C>T heterozygous in 1 patient, c.915G>A in 18 patients, 4 of which were homozygous and 14 heterozygous, and c.261G> T was heterozygous in one prostate cancer patient. Among these five variants, TERT c.261G>T was identified as potentially harmful. It was confirmed by Sanger sequencing that the patient carrying the potentially harmful variant was heterozygous mutant. The five variations we found in our study hold a potential to serve as new prostate cancer biomarkers, and great majority of the mutations have not been associated with this cancer type. It will help to rearrange pathological categorization by explaining the molecularly inexplicable characteristics of prostate cancer in accordance with further validation of our findings with studies to be conducted with a larger sample size. Key Words: Next Generation Sequencing, Prostate Cancer, IDH2, TERT