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Isocitrate dehydrogenase mutations in diffuse gliomas: clinical and aetiological implications
  1. R Gupta1,2,
  2. R Webb-Myers1,2,3,
  3. S Flanagan1,2,
  4. M E Buckland1,2
  1. 1Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, Australia
  2. 2Discipline of Pathology, University of Sydney, Sydney, Australia
  3. 3Department of Neurosurgery, Royal Prince Alfred Hospital, Sydney, Australia
  1. Correspondence to Dr Michael E Buckland, Rm 502A, D06 Blackburn Building, University of Sydney, Sydney, NSW 2006, Australia; michael.buckland{at}


The discovery of isocitrate dehydrogenase (IDH) mutations in gliomas is one example of the large impact that next-generation sequencing is having on the understanding of tumour biology and human disease in general. IDH mutations are early and common events in the development of astrocytomas, oligodendrogliomas and oligoastrocytomas. IDH mutations are also found in some myeloid malignancies and soft tissue tumours, but are rare in other malignancies. IDH mutation detection can be incorporated into routine pathology practice via immunohistochemistry and/or standard sequencing techniques and has great diagnostic value. An emerging theme is that IDH mutation status in gliomas is of great prognostic relevance, and there are proposals to include IDH mutation status in the next iteration of the WHO classification of gliomas. The mechanisms of action(s) of mutant IDH are not fully understood, but the understanding is progressing rapidly, and may provide a mechanism to link diverse proneoplastic processes such as oxidative damage and epigenetic dysregulation. There are exciting prospects of novel therapies for glioma patients emerging from the elucidation of these mechanisms. Given the diagnostic and prognostic implications of IDH mutation, and the potential for new therapies, all gliomas should be assessed for IDH mutation status in the future.

  • Brain tumours
  • cancer genetics
  • CJD
  • colorectal cancer
  • dementia
  • gall bladder
  • glioma
  • immunohistochemistry
  • isocitrate dehydrogenase
  • kidney
  • molecular genetics
  • mutation
  • neuropathology
  • oncogenes
  • pancreas
  • prognosis
  • prostate
  • p53

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  • Competing interests None.

  • Provenance and peer review Commissioned; externally peer reviewed.