Which genetic tumor markers have been used to classify glioblastoma multiforme (GBM)?

Updated: Jul 01, 2019
  • Author: Jeffrey N Bruce, MD; Chief Editor: Herbert H Engelhard, III, MD, PhD, FACS, FAANS  more...
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Answer

Eckel-Passow and colleagues classified gliomas into groups on the basis of three tumor markers: mutations in the TERT promoter, mutations in IDH, and codeletion of chromosome arms 1p and 19q (1p/19q codeletion). The groups had different ages at onset, overall survival, and associations with germline variants, which implies that they are characterized by distinct mechanisms of pathogenesis. Findings included the following [37] :

  • Among patients with a histopathologic diagnosis of glioblastoma, those with both TERT and IDH mutations had poor overall survival
  • Isolated IDH mutations were significantly more frequent in younger patients (mean age at diagnosis, 37 years) and seemed to be associated with tumor evolution along a secondary glioblastoma pathway
  • Mean age at diagnosis was highest (59 years) in patients whose tumors harbored TERT mutations only
  • Patients whose tumors harbored TERT mutations suffered worse overall survival compared with the other molecular subgroups
  • Patients with triple-negative gliomas (IDH-, TERT -, 1p19q intact) had poorer overall survival than patients who had gliomas with TERT or  IDH, or who had triple-positive gliomas

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