How gene mutation leads to liver cancer found

IANS| Last Updated: Jul 09, 2014, 11:36 AM IST

Washington: There could soon be a treatment for intrahepatic cholangiocarcinoma (iCCA), the second most common form of liver cancer, as researchers have have now found how two genetic mutations in liver cells may drive tumour formation in iCCA.

Two mutant proteins IDH1 and IDH2 are linked to cancer, the findings showed.

"iCCA is resistant to standard treatments like chemotherapy and radiation," said contributing author Josep Maria Llovet from Icahn School of Medicine at Mount Sinai in the US.

"Our findings provide novel insights into the development of iCCA and offers a possible treatment option for patients suffering from this fatal disease," Llovet added.

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.

The researchers demonstrated that the expression of mutant IDH in the adult liver of genetically engineered mice impairs liver cell development and liver regeneration - a process in which the liver responds to injury - and increases the number of cells to form a tumour.

Moreover, mutant IDH were found to work with activated KRAS, a gene essential in cancer development, causing the development of premalignant lesions and a progression to metastatic iCCA.

The study appeared in the journal Nature.