Journal
JOURNAL OF CLINICAL PATHOLOGY
Volume 73, Issue 10, Pages 611-615Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jclinpath-2020-206813
Keywords
genetics; neoplasms; molecular biology
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Isocitrate dehydrogenase 1(IDH1) encodes a protein which catalyses the oxidative decarboxylation of isocitrate to alpha-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which promote tumourigenesis.IDH1mutations 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 ofIDH1characterise the majority of cases of Ollier disease and Maffucci syndrome.IDH1mutations are uncommon in epithelial neoplasia but have been described in cholangiocarcinoma.
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