The ForeSENTIA IDH1 and IDH2 Gene-Focused Panel tests for single nucleotide variants, insertions and deletions on the IDH1 and IDH2 genes. IDH1 and IDH2 are genes transcribed into metabolic enzymes responsible for converting isocitrate to α-ketoglutarate. This protein is essential in cell metabolism, regulation of cell signaling pathways, and cell proliferation.
In cancer, they were found to be frequently mutated resulting in abnormal cell signaling regulation, and cell proliferation of cancerous cells. Some examples of cancers caused by mutations in IDH1/IDH2 include glioblastomas, cholangiocarcinomas, and others.
Different drugs against IDH1 and IDH2 are currently being studied for their efficacy in different types of tumors. One drug that was recently approved by the FDA is ivosidenib, which targets IDH1 in cholangiocarcinoma patients.
Recommendations by professional bodies:
ESMO recommends genetic testing of IDH1 and IDH2 genes for patients with cholangiocarcinoma (Normanno et al., 2022)
References and more information:
• Yang H, Ye D, Guan KL, Xiong Y. IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives. Clin Cancer Res. 2012 Oct 15;18(20):5562-71. doi: 10.1158/1078-0432.CCR-12-1773. PMID: 23071358; PMCID: PMC3897211.
• Normanno N, Martinelli E, Melisi D, Pinto C, Rimassa L, Santini D, Scarpa A. Role of molecular genetics in the clinical management of cholangiocarcinoma. ESMO Open. 2022 Jun;7(3):100505. doi: 10.1016/j.esmoop.2022.100505. Epub 2022 Jun 10. PMID: 35696744; PMCID: PMC9198375.