Genetic analysis of glioblastoma multiforme

Glioblastoma Multiforme (GBM) derived from glial cells is one of the most frequent and malignant brain tumors classified as grade IV by WHO (World Health Organization) accounts for one in four of all primary brain tumors. Incidence is between 45 and 70 years and overall survival time of patients is 12-15 months.In our study, screening of exon 4 of IDH1 gene by sequencing which is frequently encountered in GBMs, detection of deletion of 10q23/PTEN locus by FISH analysis and evaluation of the correlation between age of patients and survival were aimed. For this purpose, DNAs obtained from paraffin embedded archival materials belong to 54 cases diagnosed as GBM in of Karadeniz Technical University, Faculty of Medicine, Department of Medical Pathology were sequenced. Additionally overall 20 cases; (5 of them which harbored a IDH1 mutation) and 10 non-neoplastik brain tissues that were used as controls included in FISH analysis study.The most detected IDH1 mutation is p.R132H in GBMs which frequency reported as 6-30% in GBMs in the literature. In this study, the classification of the GBM cases was not done and the IDH1 p.R132H mutation frequency was detected as 9.3%. The average age of the cases harboring the p.R132H mutation was calculated 46 while the average age of patients without this mutation was 56. There is not statistical significance between average age of the cases and IDH1 p.R132H mutation. The survival rate of the patients with this mutation was calculated 12 months while it was 8 months for the patients with no mutation; however, this finding was not statistically significant.As there is not any conducted study on genetic of the GBM in the Black Sea Region, this study is important and it is very unique to our region. It is believed that this study will shed light on this issue for future studies.