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IDH1
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Interpretation 143
Tier 1
IDH1
Variants
IDH1 R132H
IDH1 R132L
IDH1 R132C
IDH1 codon(s) 132 any
Primary Sites
Spinal Cord
Brain
Brain, Supratentorial
Brain, Infratentorial
Tumor Types
Glioblastoma
Astrocytoma, Anaplastic
Oligodendroglioma
Astrocytoma, Diffusely Infiltrating
Infiltrating Glioma, NOS
Neuroepithelial neoplasm, high grade
Neuroepithelial Neoplasm, NOS
Glioma
High Grade Glioma
Oligodendroglioma, Anaplastic
Interpretation

IDH1 or IDH2 mutations are found in >70% of lower grade diffusely infiltrative gliomas and in >90% of secondary glioblastoma. IDH mutational status has been reported to be a favorable prognostic indicator relative to wild-type gliomas of similar histology, regardless of grade. Therapeutic strategies exploiting mutated IDH protein, including through direct inhibition and vaccine-based approaches, are currently the subject of preclinical research and clinical trials.

Citations
  1. Julie-Aurore Losman et al...What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer. Genes & Dev. 2013. 27: 836-852
  2. Venneti S, et al. The evolving molecular genetics of low-grade glioma. Adv Anat Pathol 2015;22(2):94-101
  3. Losman JA, et al. What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer. Genes Dev 2013;27(8):836-52
  4. Cohen AL, et al. IDH1 and IDH2 mutations in gliomas. Curr Neurol Neurosci Rep 2013;13(5):345
  5. Fathi AT, et al. Isocitrate dehydrogenase 1 (IDH1) mutation in breast adenocarcinoma is associated with elevated levels of serum and urine 2-hydroxyglutarate. Oncologist 2014;19(6):602-7
  6. Patel JP, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012;366(12):1079-89
  7. Borger DR, et al. Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. Oncologist 2012;17(1):72-9
  8. Sequist LV, et al. Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice. Ann Oncol 2011;22(12):2616-24
  9. Schittenhelm J Recent advances in subtyping tumors of the central nervous system using molecular data. Expert Rev Mol Diagn 2017;17(1):83-94
Last updated: 2021-12-03 18:06:37 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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