Glial tümörlerde IDH 1, IDH2, NGMT, tert, ATRX ve H3F3A gen mutasyonlarının belirlenmesı

OBJECTIVE: Glial tumors make up almost half of all malignant brain tumors. The most popular and dangerous kind of primary brain tumor is Glioblastoma Multiforme(GBM). The survival rates of GBM are very short and it could be predictable with molecular markers. The aim of our study is to evaluate IDH1, IDH2, TERT, MGMT and ATRX genes with next-generation sequencing to find potential pathological mutations and their effect on survival. MATERIALS AND METHODS: Thirty patients who had a craniotomy and diagnosed with high-grade glioma were evaluated for this study. Peripheral blood samples were obtained from all participants. IDH1, IDH2, TERT, MGMT and ATRX genes were evaluated with next-generation sequencing from the samples. To evaluate the effects of all these mutations on survival we made survival analysis by SPSS. RESULTS: The median age of the patients was 58.5 (11-74), and 56.7% (n=17) were under 60 years of age. According to gender, the rate of male patients was 66.7% and the rate of female patients was 33.3%. Eighty percent of the patients had IDH, 83.3% MGMT, and 70% had EGFR positivity. After the targeted gene sequencing performed on the patients, 21 mutations were detected. Three of these mutations were found in IDH 1, 2 in IDH2, 6 in TERT, 7 in MGMT, and 3 in ATRX. When female gender status was taken as reference, the overall survival of female gender status was 4.63 times, and when more than three chromosome anomaly was accepted as a reference, it was determined from the available data that anomaly in three or less chromosomes negatively affected overall survival 2.83 times. CONCLUSIONS: Targeted NGS enables glial tumor categorization that is both accurate and therapeutically meaningful, providing better prognostic information than conventional histology. There is evidence to suggest that these cancers should be reclassified using molecular markers, although how this should be done in clinical practice is still up for debate. However, it's obvious that incorporating molecular diagnostics into our standard-of-care routine will help us better understand our patients' outcomes. Key Words: Next Generation Sequencing, Glioblastoma, Molecular Biology, IDH1/2, MGMT, TERT, ATRX