Cells throughout the body carry genes called IDH. The IDH gene family (consisting of IDH1, IDH2, and IDH3) makes something called a metabolic enzyme. This type of enzyme is involved in essential chemical reactions. IDH genes are foundational when it comes to supporting and sustaining life.
When the genes are acting normally, the enzymes keep the body healthy. This is called “wild-type” (WT) or normal.
Sometimes, after birth, a mutation in an IDH gene can form. This is not typically caused by an inherited condition. If the IDH1 or IDH2 gene mutates, the enzymes it produces begin to produce something called 2-HG. 2-HG can change how the cells function without altering the DNA, something called altering epigenetics, which means it acts like a switch to turn genes on and off. This interrupts the cells’ process for keeping the body healthy and can lead to cancer.
It’s estimated that 15-20% of cholangiocarcinoma patients with iCCA have mutations in IDH1 or IDH2.
Biomarker testing can be run on tumor or blood samples to determine if there’s a mutation in the IDH genes. If so, there may be targeted therapies available for treatment - a set of drugs called “inhibitors” that can block the mutant IDH proteins and stop the disruption in the cell environment.
Cholangiocarcinoma (in advanced, specific situations)
Several other IDH1 and IDH2 inhibitors are actively being studied in clinical trials for cholangiocarcinoma patients.
Your treatment plan will be unique and dependent on several factors. Ask your doctor how your biomarker test results are informing your treatment plan and if you qualify for any clinical trials.
