Gene Mutation May Lead to Treatment for Liver Cancer

Editor’s note: Cancer is caused by genetic mutations that lead to excess cell growth and tumor formation. Scientists have identified many specific cancer-causing mutations, and drugs have been developed to target and treat tumors with some of these specific mutations. Researchers recently discovered that two mutations—IDH1 and IDH2—can lead to the development of intrahepatic cholangiocarcinoma (iCCA). The discovery could open up new treatment options for some patients who have these mutations. Indeed, there are ongoing clinical trials testing new drugs in patients with IDH1 and IDH2 mutations.

“Two genetic mutations in liver cells may drive tumor formation in intrahepatic cholangiocarcinoma (iCCA), the second most common form of liver cancer, according to a research published in the July issue of the journal Nature.

“A team led by the Icahn School of Medicine at Mount Sinai and Harvard Medical School has discovered a link between the presence of two mutant proteins IDH1 and IDH2 and cancer. Past studies have found IDH mutations to be among the most common genetic differences seen in patients with iCCA, but how they contribute to cancer development was unknown going into the current effort.

“iCCA strikes bile ducts, tube-like structures in the liver that carry bile, which is required for the digestion of food. With so much still unknown about the disease, there is no first-line, standard of care and no successful therapies.

” ‘iCCA is resistant to standard treatments like chemotherapy and radiation,’ said Josep Maria Llovet, MD, Director of the Liver Cancer Program, Division of Medicine, Icahn School of Medicine at Mount Sinai, and contributing author. ‘Understanding the molecular mechanism of the disease is the key to finding a treatment that works.’ ”