WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
IDH1
  • Information
  • View History
  • Pending Review
Interpretation 177
Tier 2
IDH1
Variants
IDH1 R132H
IDH1 R132L
IDH1 R132C
IDH1 codon(s) 132 any
Primary Sites
Liver
Tumor Types
Cholangiocarcinoma
Interpretation

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.

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. Cohen et al...IDH1 and IDH2 Mutations in Gliomas. Curr Neurol Neurosci Rep. 2013 May; 13(5): 345.
  3. 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.
  4. 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
  5. 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.
  6. 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
Last updated: 2016-06-07 02:05:32 UTC
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use