TY - JOUR T1 - Gene of the month: <em>IDH1</em> JF - Journal of Clinical Pathology JO - J Clin Pathol SP - 611 LP - 615 DO - 10.1136/jclinpath-2020-206813 VL - 73 IS - 10 AU - Cassandra Bruce-Brand AU - Dhirendra Govender Y1 - 2020/10/01 UR - http://jcp.bmj.com/content/73/10/611.abstract N2 - 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. ER -