title: IDH1 mutations is prognostic marker for primary glioblastoma multiforme but MGMT hypermethylation is not prognostic for primary glioblastoma multiforme.
abstract: OBJECTIVE
  To establish the frequency of IDH1 mutations and MGMT methylation in primary glioblastomas.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Mersin 10, Turkey; Department of Medical Genetics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. Electronic address: kalkanr@yahoo.com.
authors.forename: Rasime
authors.initials: R
authors.lastname: Kalkan
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey; Acibadem University, Department of Molecular Biology and Genetics, Istanbul, Turkey. Electronic address: emineikbal@gmail.com.
authors.forename: Emine İkbal
authors.initials: Eİ
authors.lastname: Atli
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. Electronic address: mozdemir@ogu.edu.tr.
authors.forename: Muhsin
authors.initials: M
authors.lastname: Özdemir
authors.affiliation: Department of Pathology, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. Electronic address: evrimciftciy@yahoo.com.tr.
authors.forename: Evrim
authors.initials: E
authors.lastname: Çiftçi
authors.affiliation: Department of Neurosurgery, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. Electronic address: dremreaydin@gmail.com.
authors.forename: Hasan Emre
authors.initials: HE
authors.lastname: Aydin
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. Electronic address: sartan@ogu.edu.tr.
authors.forename: Sevilhan
authors.initials: S
authors.lastname: Artan
authors.affiliation: Department of Neurosurgery, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. Electronic address: aali@ogu.edu.tr.
authors.forename: Ali
authors.initials: A
authors.lastname: Arslantaş
mesh_terms: D000328:Adult; D000367:Age Factors; D014408:Biomarkers, Tumor / Q000378:metabolism*; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D019175:DNA Methylation; D015254:DNA Modification Methylases / Q000235:genetics*; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes / Q000235:genetics*; D005091:Exons; D005260:Female; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D005909:Glioblastoma / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D014421:Turkey
chemical_list: D014408:Biomarkers, Tumor; D025521:Tumor Suppressor Proteins; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; D015254:DNA Modification Methylases; C515491:MGMT protein, human; D045643:DNA Repair Enzymes
keywords: IDH1 mutation; MGMT methylation; MS-HRM; Primary glioblastoma