IDH1 mutations is prognostic marker for primary glioblastoma multiforme but MGMT hypermethylation is not prognostic for primary glioblastoma multiforme

Gene. 2015 Jan 1;554(1):81-6. doi: 10.1016/j.gene.2014.10.027. Epub 2014 Oct 14.

Abstract

Purpose: To establish the frequency of IDH1 mutations and MGMT methylation in primary glioblastomas.

Experimental design: We screened primary glioblastoma multiforme (GBM) in a population-based study for IDH1 mutations and MGMT methylation and correlated them with clinical data.

Results: IDH1 mutations were detected in 5 of 40 primary glioblastomas (12,5%). Primary GBM patients carrying IDH1 mutations were significantly younger, mean age of 41±5.06years, than patients with wild-type IDH1, mean age of 57±2,29years, p=0.011. The mean survival time of all GBM patients with and without IDH1 mutations was 19months (5 cases) and 16months (35 cases), respectively (p>0,05). MGMT methylation was detected in 13 of the 40 patients (32,5%). MGMT-promoter methylation did not correlate with overall survival (OS; p>0,05).

Conclusion: In summary, our study is the first study to investigate the IDH1 mutation status and MGMT methylation in primary GBMs in Turkish population and confirmed IDH1 mutation as a genetic marker for also primary GBMs. Our data are still insufficient for definite ascertainment; and our preliminary results suggest: IDH1 status shows an association with younger age and there is a lack of association between IDH1 mutation and survival time. Furthermore MGMT promoter methylation had no prognostic value and lower frequency in primary glioblastomas.

Keywords: IDH1 mutation; MGMT methylation; MS-HRM; Primary glioblastoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Biomarkers, Tumor / metabolism*
  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / mortality
  • DNA Methylation*
  • DNA Modification Methylases / genetics*
  • DNA Mutational Analysis
  • DNA Repair Enzymes / genetics*
  • Exons
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Glioblastoma / diagnosis*
  • Glioblastoma / genetics
  • Glioblastoma / mortality
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Prognosis
  • Tumor Suppressor Proteins / genetics*
  • Turkey

Substances

  • Biomarkers, Tumor
  • Tumor Suppressor Proteins
  • Isocitrate Dehydrogenase
  • IDH1 protein, human
  • DNA Modification Methylases
  • MGMT protein, human
  • DNA Repair Enzymes