Patients & Caregivers

About IDH Mutations in Cancer

Cancer is a disease characterized by unregulated cell growth. Cancer typically develops when normal cells are not able to repair damaged genetic material, and genes that would regulate cell growth become disrupted. This can be caused by genetic predisposition, cellular dysfunction or carcinogens, such as radiation, chemicals and hormones. At Agios, our lead programs are focused on cancers with a mutated isocitrate dehydrogenase (IDH) protein.

What is an IDH protein and how does it relate to cancer?

Isocitrate dehydrogenase (IDH) 1 and 2 are metabolic enzymes that are mutated in a wide range of blood and solid tumor cancers, including acute myeloid leukemia (or AML, the most common leukemia), cholangiocarcinoma, chondrosarcoma and glioma. Normally, IDH enzymes help to break down nutrients and generate energy for cells. When mutated, IDH creates a molecule that alters the cells’ genetic programming, and instead of maturing, the cells remain primitive and proliferate quickly. Agios believes that targeting mutated IDH may have the potential to benefit the subset of patients with tumors that carry IDH mutations. These tumor cells have been found to carry either an IDH1 or IDH2 mutation, but typically not both.

What kinds of cancers have a mutated IDH protein?

IDH1 and IDH2 mutations appear to be present in a wide range of hematologic tumors (blood cancers) and solid tumor cancers. Acute myeloid leukemia (AML), for example, is one blood cancer where both IDH1 and IDH2 mutations have been observed in patients. IDH mutations have also been observed in patients with gliomas (low-grade glioma and secondary glioblastoma), as well as other solid and blood cancers, such as colon, melanoma and lung. Importantly, mutations in IDH1 have been identified in difficult-to-treat cancers such as chondrosarcoma and cholangiocarcinoma, for which both the treatment options and prognosis for patients are poor.

How do I know if my cancer has an IDH mutation?

There are multiple ways to determine the genetic make-up of your cancer. Talk to your doctor to determine the best options for you.

What are the treatment options for IDH mutated cancers?

Patients are treated based on the standard of care for their specific cancer type. The most common methods of treating patients with cancer are surgery, radiation and drug therapy. Cancer patients often receive treatment with a combination of these methods.