IDH1 codon(s) 132 any
IDH-mutant tumors have aberrant production and accumulation of the oncometabolite 2-hydroxyglutarate (2-HG), which may play a pivotal oncogenic role in several malignancies. Mutations in IDH1 and IDH2 have been reported in intrahepatic cholangiocarcinomas. IDH1 mutation has been associated with highly elevated tissue levels of the enzymatic product 2-hydroxyglutarate. IDH1 mutation has been described to be a feature of intrahepatic cholangiocarcinomas.
Julie-Aurore Losman et al...What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer. Genes & Dev. 2013. 27: 836-852
Cohen et al...IDH1 and IDH2 Mutations in Gliomas. Curr Neurol Neurosci Rep. 2013 May; 13(5): 345.
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. Patel JP, Gönen M, et al N Engl J Med. 2012 Mar 22;366(12):1079-89. doi: 10.1056/NEJMoa1112304. Epub 2012 Mar 14.
Isocitrate dehydrogenase 1 (IDH1) mutation in breast adenocarcinoma is associated with elevated levels of serum and urine 2-hydroxyglutarate.Fathi AT, Sadrzadeh H et al, Oncologist. 2014 Jun;19(6):602-7. doi: 10.1634/theoncologist.2013-0417. Epub 2014 Apr 23
Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. Borger DR, Tanabe KK, Fan KC et al, Oncologist. 2012;17(1):72-9. doi: 10.1634/theoncologist.2011-0386. Epub 2011 Dec 16.
Sequist LV, Heist RS, Shaw AT, et al. Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice. AnnOncol. 2011;22:2616–2624
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