A group of SFU researchers have collaborated with colleagues internationally to provide insight into the “mutational landscape” of a rare type of fatal liver cancer, which may allow them to identify its cause and improve its diagnosis and treatment.
Intrahepatic cholangiocarcinoma (ICC) or intrahepatic bile duct cancer, while only observed in five to 10 per cent of those with primary liver cancer, is very dangerous for those affected. This is because it is based in the bile duct, where it is unlikely to be detected.
A lack of diagnostic tools make it difficult to form a conclusive diagnosis in the early stages of the ailment. Therefore, it is usually detected at advanced stages when it is too late to be successfully treated.
Jack Chen, SFU associate professor in the department of molecular biology and biochemistry, worked closely with a research group at SFU, including postdoctoral fellow Jiarui Li, doctoral graduate Christian Frech, and master’s student Xinyin Zhao.
By understanding the nature of the mutations that are associated with ICC, Chen suggested that one can potentially learn more about the cancer’s cause. That way, “information could be imprinted in the mutation profile,” creating what is known as the “mutational landscape.”
As a group, they collaborated with researchers from Shanghai. The clinical and molecular biology components of the study took place there, while the sequencing technology and computational power were provided at SFU.
ICC is most commonly diagnosed in individuals who live in Southeast Asia. Chen explained that this is ”likely due to environments and the type of mutagens they are exposed to.” For example, ICC is diagnosed at an incidence 100 times higher in Thailand than the worldwide average.
Further research into this type of cancer is becoming increasingly important, as the incidence rates have risen globally from 0.32 to 0.85 per 100,000 people — a 165 per cent increase.
The study involved 103 ICC patients who underwent surgical removal of the tumour. Chen explained, “We sequenced the tumour genome and we also sequenced the normal genome from the same person, so that we can compare the genomes to identify differences — in other words, mutations that are specific to the tumour sample.”
With these findings, Chen and his colleagues will be able to understand more about the sorts of mutagens that are causing these harmful mutations, the types of mutations in the genes themselves, and finally, the types of cellular pathways that will be affected as an end result.
In the future, this information could be used to develop the tools necessary to increase diagnostic accuracy and hopefully improve ICC patient prognoses, giving patients more time to receive potentially life-saving treatments.