Estudio de las alteraciones genéticas del IDH1 y del VEGF en los tumores cerebrales

Resum

Introduction: Multiple molecular markers have recently been related to brain tumors. This study evaluates the presence of gene mutation in isocitrate dehydrogenase enzyme (IDH1) and the vascular endothelial growth factor (VEGF) +936 C/T polymorphism in brain tumors. The impact of these genetic alterations on overall survival was evaluated. Material and Method: A sample of 93 patients operated at Hospital Clínico San Carlos, Madrid, between March 2004 and November 2012, were included. A total of 325 Nephrology outpatients were taken as controls for the VEGF study. Results: IDH1 mutation was found in 12 patients (13.04%), 5 (45.45%) in benign gliomas and 7 (14.38%) in malignant gliomas. The survival curve for IDH1 showed a tendency towards a better prognosis of the tumors exhibited by the mutation, with a p 0.0731 and a Hazard Ratio 0.35. The VEFG +936 C/T polymorphism was found in 20 patients (21.51%), the most common being in oligodendrogliomas, meningiomas and ependymomas, and unrelated to survival. Regarding the controls for VEGF, this polymorphism was recorded in 23.38% of the patients. The case-control study did not show any association with survival or the risk of developing a brain tumor. Conclusions: IDH1 mutation is more frequent in benign gliomas, with a greater survival trend in patients who carry it. The VEGF +936 C/T polymorphism is more common in benign tumors, although there is no statistic relation to survival.