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Interpretation 371
Tier 2
IDH1
Variants
IDH1 R132C
IDH1 codon(s) 132 any
Primary Sites
Colon
Tumor Types
Adenocarcinoma
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 including AML, central nervous system and biliary tract. Strikingly, IDH1 mutations were rarely detected in the other solid tumor types. IDH1 mutation has been reported in up to 2% of colorectal adenocarcinomas. The clinical significance of this mutation with regards to response to anti-IDH1 therapy in colorectal cancer is unknown. Results should be interpreted in conjunction with other laboratory and clinical findings.

Citations
  1. Giannakis M, et al. Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma. Cell Rep 2016;():
  2. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487(7407):330-7
  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. Patel JP, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012;366(12):1079-89
  6. 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
Last updated: 2018-04-18 18:23:31 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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