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 including AML, central nervous system and billary tract. Strikingly, IDH1 mutations were rarely detected in the other solid tumor types. Reports have shown that melanoma cases can harbor IDH1 mutations. An IDH1 R132C mutation was found in a melanoma metastasis to the lung. IDH1 mutations were found to coexist with BRAF or KIT mutations, and all were detected in metastatic lesions. Coexistence of IDH1 R132C mutation with KRAS has also been reported in a single case of lung adenocarcinoma (Sequist et al., Ann Oncol., 22:2616–2624, 2011). The clinical significance of this mutation with regards to response to anti-IDH1 therapy in lung cancer is unknown.
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.
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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