Genetic Mutatation in Liver Cell Might Lead to Liver Cancer

The second most common type of liver cancer, intrahepatic cholangiocarcinoma (iCCA), can be triggered by two genetic mutations in the liver cells, states a study.

Researchers at the Icahn School of Medicine at Mount Sinai and Harvard Medical School have found a link between the two mutant proteins IDH1 and IDH2, and the cancer.

The iCCA affects the bile ducts, which carry bile secretion from the liver, essential for digestion.

The liver cancer is resistant to most treatment. Past studies discovered IDH mutations as the differentiating factor in patients with iCCA, but were unable to pinpoint its exact role in the cancer.

"iCCA is resistant to standard treatments like chemotherapy and radiation," said contributing author Josep Maria Llovet, MD, Director of the Liver Cancer Program at the Division of Medicine in Icahn School of Medicine at Mount Sinai, in a press release.

The team showed that in genetically altered mice the expression of IDH impairs liver cell development, essential for liver repair, which can lead to tumor formation.

Apparently, the mutant IDH was found to work with the active KRAS, a gene essential in cancer development, which causes the development of premalignant lesions and progression to metastatic iCCA.

The understanding of molecular mechanism of the disease is the key finding for the treatment of this specific malignant cell and the in-depth study of the IDH1 and IDH2 has opened up a new pathway for the treatment of iCCA.