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Gene of the month: IDH1
  1. Cassandra Bruce-Brand1,2,
  2. Dhirendra Govender3,4
  1. 1Division of Anatomical Pathology, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, Western Cape, South Africa
  2. 2Anatomical Pathology, National Health Laboratory Service, Tygerberg Hospital, Cape Town, Western Cape, South Africa
  3. 3Anatomical Pathology, Pathcare Cape Town, Cape Town, South Africa
  4. 4Division of Anatomical Pathology, University of Cape Town, Cape Town, Western Cape, South Africa
  1. Correspondence to Dr Cassandra Bruce-Brand, Division of Anatomical Pathology, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town 7602, South Africa; cassandra.bruce-bran{at}nhls.ac.za

Abstract

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.

  • genetics
  • neoplasms
  • molecular biology

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Footnotes

  • Handling editor Runjan Chetty.

  • Contributors Both authors contributed equally.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; internally peer reviewed.

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