IDH1 and IDH2 Mutations in Colorectal Cancers

Jialing Huang, Li Hui Tseng, Vamsi Parini, Parvez M. Lokhandwala, Aparna Pallavajjala, Erika Rodriguez, Rena Xian, Liam Chen, Christopher D. Gocke, James R. Eshleman, Ming Tseh Lin

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Objectives: To elucidate clinicopathologic and molecular characteristics of IDH1 and IDH2 (IDH1/2) mutations in colorectal cancers (CRCs). Methods: We evaluated IDH1/2 mutations in 1,623 CRCs using a next-generation sequencing assay. Results: IDH1/2 mutations, predominantly IDH1 p.R132C, were detected in 15 (0.9%) CRCs and in 5 (3.0%) of 167 BRAF p.V600E-mutated CRCs. Three IDH1/2-mutated CRCs were associated with inflammatory bowel disease. They were significantly associated with old age, mucinous or signet ring cell adenocarcinoma, and high-grade histomorphology. Concordance of variant allele frequency between IDH1/2 mutants and other trunk drivers in CRCs and presence of IDH1/2 mutation in the adenoma and early adenocarcinoma indicated IDH1/2 mutations could be trunk drivers suitable for targeted therapy. Conclusions: IDH1/2 mutations in CRCs were uncommon but enriched in BRAF p.V600E-mutated CRCs and perhaps colitis-associated CRCs. Further studies on IDH1/2-mutated CRCs are needed to clarify their clinicopathologic features and implications for targeted therapy.

Original languageEnglish (US)
Pages (from-to)777-786
Number of pages10
JournalAmerican journal of clinical pathology
Issue number5
StatePublished - Nov 1 2021
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2021 American Society for Clinical Pathology. All rights reserved.


  • BRAF p.V600E
  • Colitis-associated cancer
  • Colorectal cancer
  • IDH1
  • IDH2


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