Rare cancer's genetic pathway identified

The ‘mutational landscape’ of a rare, highly fatal form of liver cancer that disproportionately affecting people in Asian countries has been identified.

Scientists from Simon Fraser University (SFU) in Canada collaborated with Chinese researchers to identify how these mutations affect genes and signal pathways that might drive the formation of tumours in intrahepatic cholangiocarcinoma (ICC).

"Our research will be an important resource for scientists working to improve understanding and therapy for the disease," said Nansheng J. Chen, molecular biology and biochemistry professor at SFU.

ICC accounts for approximately 10 per cent of primary liver malignancies worldwide but its incidence and mortality rates have been increasing rapidly in recent years.

The prognosis for ICC patients is usually poor, as early tumours are undetectable during routine examinations because the bile ducts are deep inside the body, leading to diagnosis only after symptoms develop and the disease has advanced.

There are no effective therapies for ICC and the median survival duration is less than six to nine months after diagnosis, according to a recent study in the Canadian Journal of Gastroenterology.

The findings, published in the journal Nature Communications, could potentially lead to earlier and more accurate diagnosis and increased survival rates for patients with the disease, also known as intrahepatic bile duct cancer.

The study is also the first and only large-scale effort to target ICC patients in China and the largest of all such projects worldwide.

It revealed that Chinese ICC patients show substantial important differences in mutation profile when compared with patients from other countries, which could have important implications for Chinese Canadians with the disease.