The clinical use of IDH1 and IDH2 mutations in gliomas

Expert Rev Mol Diagn. 2018 Dec;18(12):1041-1051. doi: 10.1080/14737159.2018.1548935. Epub 2018 Nov 29.


Introduction: Mutations in the genes isocitrate dehydrogenase (IDH) 1 and 2 have been reported in a limited number of tumors. In gliomas, IDH mutations are primarily detected in WHO grade II-III tumors and represent a major biomarker with diagnostic, prognostic, and predictive implications. The recent development of IDH inhibitors and vaccines suggests that the IDH mutation is also an appealing target for therapy. Areas covered: This review focuses on the role of IDH mutations in diffuse gliomas. Besides discussing their role in gliomagenesis, we will emphasize the role of IDH mutations in clinical practice as a diagnostic, prognostic and predictive biomarker, and as a potential therapeutic target. Noninvasive detection of the IDH mutation by means of liquid biopsy and MR spectroscopy will also be discussed. Expert commentary: While IDH mutation is a consolidated diagnostic and prognostic biomarker in clinical practice, its role in oncogenesis is far from being elucidated, and there are several pending issues. The routine use of noninvasive techniques for detection and monitoring of the IDH status remains challenging. Although the IDH mutation is a very early alteration in gliomagenesis, it may then be omitted during tumor progression. This observation has important implications when designing targeted clinical trials.

Keywords: IDH1and IDH2 mutations; biomarkers; gliomagenesis; grade II and III gliomas; target therapy.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Carcinogenesis / genetics
  • Glioma / genetics*
  • Glioma / pathology
  • Glioma / therapy
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Molecular Targeted Therapy
  • Mutation


  • Biomarkers, Tumor
  • IDH2 protein, human
  • Isocitrate Dehydrogenase
  • IDH1 protein, human