Molecular Pathology of Gliomas

Surg Pathol Clin. 2021 Sep;14(3):379-386. doi: 10.1016/j.path.2021.05.003. Epub 2021 Jul 8.


Gliomas are the most common adult and pediatric primary brain tumors. Molecular studies have identified features that can enhance diagnosis and provide biomarkers. IDH1/2 mutation with ATRX and TP53 mutations defines diffuse astrocytomas, whereas IDH1/2 mutations with 1p19q loss defines oligodendroglioma. Focal amplifications of receptor tyrosine kinase genes, TERT promoter mutation, and loss of chromosomes 10 and 13 with trisomy of chromosome 7 are characteristic features of glioblastoma and can be used for diagnosis. BRAF gene fusions and mutations in low-grade gliomas and histone H3 mutations in high-grade gliomas also can be used for diagnostics.

Keywords: 1p19q loss; ATRX mutation; BRAF V600E mutation; BRAF fusion; Histone H3 K27M mutation; IDH1/2 mutation.

Publication types

  • Review

MeSH terms

  • Adult
  • Brain Neoplasms* / genetics
  • Child
  • Glioma* / diagnosis
  • Glioma* / genetics
  • Histones
  • Humans
  • Isocitrate Dehydrogenase / genetics
  • Mutation
  • Pathology, Molecular


  • Histones
  • Isocitrate Dehydrogenase