‘Mutational landscape’ of intrahepatic cholangiocarcinoma uncovered
Researcher collaborators from China and Simon Fraser University (British Columbia, Canada) have discovered the genetic mutations and associated pathways underpinning intrahepatic cholangiocarcinoma (ICC) – a rare, fatal form of liver cancer that most commonly affects individuals in Asia. The study was published in the journal Nature Communications.
As the first and the largest study of its kind, the international team of collaborators targeted ICC patients in China in an attempt to pinpoint exactly how particular mutations affect genetic and signaling pathways, which could in turn drive the formation of ICC liver tumors.
The results revealed that Chinese patients show substantial differences in mutation profiles when compared with patients from other countries. This could have important implications for countries with diverse ethnic backgrounds, such as Canada.
ICC, also commonly known as intrahepatic bile duct cancer, affects approximately one in 100,000 individuals annually in North America but 96 per 100,000 in Thailand. Additionally, the incidence and mortality rates of ICC have been increasing rapidly in recent years, with ICC accounting for approximately 10% of primary liver malignancies worldwide.
The disease affects the bile ducts, which lie deep inside the body. This means that early ICC tumors are often undetectable during examinations and prognosis is usually poor. Diagnosis most often occurs after symptoms develop and the disease has progressed. Currently, there are no effective therapies for treating the disease.
Study investigator Jack (Nansheng) Chen of Simon Fraser University commented: “Our research is by far the most comprehensive sequencing effort to identify mutations associated with ICC and will be an important resource for scientists working to improve understanding and therapy for the disease.”
Chen believes that the collaborative nature of this international research project represents a standard for the study of rare cancers in Canada.
“Some cancer types, including ICC, are uncommon in Canada, which has a relatively small population but a large diversity of ethnic origins. To get insight into the formation of tumors in these rare cancer types, we have to establish international collaborations like ours to gain access to large sample cohorts,” he continued.
“Results from this study could help us understand the driver mutations in Chinese Canadians with intrahepatic bile duct cancer. And our work illustrates that this is a real opportunity and sets up a model for working on rare disease conditions.”
As well as setting a standard for other countries, the findings will improve the understanding of ICC and could lead to clinical advances in diagnosis and patient survival rates.
Sources: Zou S, Li J, Zhou H et al. Mutational landscape of intrahepatic cholangiocarcinoma. Nature Communications; 5696 DOI: 10.1038/ncomms6696 (2014); Simon Fraser University press release
