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. A case of an IDH1 p.R132L mutation in a patient with hormone receptor-positive (HR+) breast adenocarcinoma has been reported (5). IDH1 mutations may impact a rare subgroup of patients with breast adenocarcinoma, suggesting future avenues for disease monitoring through noninvasive measurement of 2-HG, as well as for the development and study of targeted therapies against the aberrant IDH1 enzyme.
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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