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IDH2
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Interpretation 289
Tier 2
IDH2
Variants
IDH2 R140Q
IDH2 codon(s) 140, 172 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Non-Small Cell Lung Carcinoma
Interpretation

IDH2 is a mitochondrial enzyme involved in citrate metabolism. Mutations at Arg140 and Arg172 of IDH2 are typically heterozygous and are considered gain-of-function mutations that lead to increased levels of 2-hydroxyglutarate believed to alter epigenetic regulation in various tumors, especially in myeloid neoplasms. The Arg140 mutation of IDH2 has not been reported previously in lung tumors. However, a few other IDH2 mutations have been described in non-small cell lung cancers (NSCLC) in a very small number of patients in the literature. The prognostic impact of IDH2 mutations in NSCLC remains uncertain at this time. Mutant IDH2 may provide a potential therapeutic target in some settings. Clinical correlation is recommended.

Citations
  1. Cancer Genome Atlas Research Network Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014;511(7511):543-50
  2. Imielinski M, et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012;150(6):1107-20
  3. Chen C, et al. Cancer-associated IDH2 mutants drive an acute myeloid leukemia that is susceptible to Brd4 inhibition. Genes Dev 2013;27(18):1974-85
  4. McKenney AS, et al. Isocitrate dehydrogenase mutations in leukemia. J Clin Invest 2013;123(9):3672-7
Last updated: 2016-06-25 19:44:17 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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