PT - JOURNAL ARTICLE AU - Cassandra Bruce-Brand AU - Dhirendra Govender TI - Gene of the month: <em>IDH1</em> AID - 10.1136/jclinpath-2020-206813 DP - 2020 Oct 01 TA - Journal of Clinical Pathology PG - 611--615 VI - 73 IP - 10 4099 - http://jcp.bmj.com/content/73/10/611.short 4100 - http://jcp.bmj.com/content/73/10/611.full SO - J Clin Pathol2020 Oct 01; 73 AB - 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.