Assessment of molecular markers demonstrates concordance between samples acquired via stereotactic biopsy and open craniotomy in both anaplastic astrocytomas and glioblastomas

J Neurooncol. 2017 Jun;133(2):399-407. doi: 10.1007/s11060-017-2448-2. Epub 2017 May 15.

Abstract

The classification, treatment and prognosis of high-grade gliomas has been shown to correlate with the expression of molecular markers (e.g. MGMT promotor methylation and IDH1 mutations). Acquisition of tumor samples may be obtained via stereotactic biopsy or open craniotomy. Between the years 2009 and 2013, 22 patients initially diagnosed with HGGs via stereotactic biopsy, that ultimately underwent open craniotomy for resection of their tumor were prospectively included in an institutional glioma database. MGMT promotor analysis was performed using methylation-specific (MS)-PCR and IDH1R132H mutation analysis was performed using immunohistochemistry. Three patients (13.7%) exhibited IDH1R132H mutations in samples obtained via stereotactic biopsy. Tissue derived from stereotaxic biopsy was demonstrated to have MGMT promotor methylation in ten patients (45.5%), while a non-methylated MGMT promotor was demonstrated in ten patients (45.5%); inconclusive results were obtained for the remaining two patients (9%) within our cohort. The initial histologic grading, IDH1R132H mutation and MGMT promotor methylation results were confirmed using samples obtained during open craniotomy in all but one patient; here inconclusive MGMT promotor analysis was obtained in contrast to that which was obtained via stereotactic biopsy. Tumor samples acquired via stereotactic biopsy provide accurate information with regard to clinically relevant molecular markers that have been shown to impact patient care decisions. The profile of markers analyzed in our cohort was nearly concordant between those samples obtained via stereotactic biopsy or open craniotomy thereby suggesting that clinical decisions may be based on the molecular profile of the tumor samples obtained via stereotactic biopsy.

Keywords: Anaplastic astrocytoma; Glioblastoma; IDH1 mutations; MGMT-promotor methylation; Molecular markers; Stereotactic biopsy.

MeSH terms

  • Aged
  • Astrocytoma* / diagnostic imaging
  • Astrocytoma* / genetics
  • Astrocytoma* / metabolism
  • Biopsy
  • Cohort Studies
  • Craniotomy
  • DNA Modification Methylases / genetics*
  • DNA Repair Enzymes / genetics*
  • Female
  • Glioblastoma* / diagnostic imaging
  • Glioblastoma* / genetics
  • Glioblastoma* / metabolism
  • Humans
  • Image Processing, Computer-Assisted
  • Isocitrate Dehydrogenase / genetics*
  • Karnofsky Performance Status
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Promoter Regions, Genetic / genetics
  • Tumor Suppressor Proteins / genetics*

Substances

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