Pankaj Pathak
All India Institute of Medical Sciences (AIIMS), India
Title: IDH1 mutations in gliomas: First series from a tertiary care centre in India with comprehensive review of literature
Biography
Biography: Pankaj Pathak
Abstract
Mutations of the gene encoding isocitrate dehydrogenase (IDH) have been shown in a significant proportion of diffuse gliomas. These mutations are specific to gliomas and their utility for diagnosis and prognostication of these tumors is being proclaimed.IDH1 mutations in codon 132 were observed in 46% cases. The frequency was 68.8% in grade II, 85.7% in grade III and 12.8% in GBMs. R132H mutation was most frequent (84.8%). Overall frequency of these mutations was relatively higher in oligodendroglial tumours as compared to astrocytic phenotype (66.7% versus 38.4%; p = 0.06). Primary GBMs showed IDH1 mutation in only 4.4% cases. In contrast, 66.7% of secondary GBMs harboured this alteration. Patients with IDH1 mutations were significantly younger as compared to those without mutation (p = 0.001). There was a significant correlation between IDH1 mutation and TP53 mutation (p = 0.004). Although IDH1 mutation showed a positive correlation with 1p/19q deletion, the association was not statistically significant (p = 0.653). There was no correlation with EGFR amplification or PTEN deletion.