Gene of the month: IDH1

J Clin Pathol. 2020 Oct;73(10):611-615. doi: 10.1136/jclinpath-2020-206813. Epub 2020 Jul 29.


Isocitrate dehydrogenase 1 (IDH1) encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which promote tumourigenesis. IDH1 mutations have been described in a number of neoplasms most notably low-grade diffuse gliomas, conventional central and periosteal cartilaginous tumours and cytogenetically normal acute myeloid leukaemia. Post zygotic somatic mutations of IDH1 characterise the majority of cases of Ollier disease and Maffucci syndrome. IDH1 mutations are uncommon in epithelial neoplasia but have been described in cholangiocarcinoma.

Keywords: genetics; molecular biology; neoplasms.

Publication types

  • Review

MeSH terms

  • Carcinogenesis / genetics
  • Cell Transformation, Neoplastic / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Isocitrate Dehydrogenase / physiology*
  • Neoplasms / genetics*


  • Isocitrate Dehydrogenase
  • IDH1 protein, human