The secret of bile duct cancer, which is difficult to detect early, has been revealed

The genetic secrets of the development process of bile duct cancer, which is difficult to detect early, have been revealed. It is expected that the early diagnosis rate and the possibility of targeted treatment will increase.



It is expected that the path to early diagnosis of bile duct cancer will open with a genetic panel test that analyzes genomic information.



The National Research Foundation of Korea (Chairman Hong Won-hwa) announced on the 11th that the research team of Professors Park Young-nyeon and Kim Sang-woo of Yonsei University College



of Medicine has clarified the process of genetic and transcriptome changes from precancerous lesions (lesions with a high possibility of developing into cancer) of bile duct cancer to invasive bile duct cancer (cancer at stage 1 or higher). The results of base sequence analysis and spatial transcriptome analysis using tumor tissues of 166 patients with papillary biliary tract tumors and bile duct cancer showed significant differences in genetic mutations depending on the anatomical location of occurrence even in the same bile duct system (left). It was clarified that abnormalities occur in the expression of genes related to angiogenesis/development, response to growth factors, and extracellular matrix organization in the process of developing into cancer (right). [Photo = Yonsei University]



Bile duct cancer is a cancer that occurs in the biliary tract (bile duct and gallbladder), which is a passage that transports bile produced in the liver. It is known to be a fatal cancer, with 7 out of 10 patients dying within 5 years. According to the Central Cancer Registry data released in 2024, the 5-year relative survival rate for bile duct cancer from 2018 to 2022 was reported to be 29.4%.



Early detection is very difficult because there are almost no symptoms and it is not clearly distinguished from the symptoms of other diseases.



Research on genetic mutations and expression control mechanisms involved in the cancer development process is also rare, making early diagnosis and targeted anticancer treatment difficult.





The research team focused on papillary tumors of the biliary tract, known as lesions (precancerous lesions) with a high probability of developing into bile duct cancer. They found that gene expression abnormalities are involved in the development of cancer as cancer progresses from this area.



A large-scale whole-exome sequencing analysis was performed on the tissues of 166 patients diagnosed with papillary tumors and biliary tract cancer, separating the precancerous lesion area and the cancerous area infiltrating the surrounding area.



Among these, the data of 41 patients whose biliary tract papillary tumors developed into biliary tract cancer were compared and analyzed with the entire patient group. In addition, spatial transcriptome analysis (a method of analyzing the gene expression of individual cells in a specific tissue by combining their spatial location information) was performed on the tumor tissues of 9 patients.



As a result, it was revealed that biliary tract papillary tumors have different genes that mutate depending on the location of the tumor. It was found



that major oncogenic gene mutations occur even before cancer occurs, and that these mainly involve changes in the extracellular matrix (a substance that exists outside of the cell and surrounds the cell) and abnormalities in the expression of genes related to growth factor responsiveness, leading to cancer that invades surrounding tissues.



Professor Park Young-nyeon, the principal investigator, said, "This study is not only the largest-scale study on bile duct cancer, but also produced three-dimensional genetic analysis results that allowed for precise tracking of the carcinogenesis process." He added, "In the future, it can be used to create a genetic testing panel, contributing to early diagnosis."



The results of this study (title of the paper: Genomic and transcriptomic signatures of sequential carcinogenesis from papillary neoplasm to biliary tract cancer) were published on January 18 in the Journal of Hepatology, an international academic journal in the fields of gastroenterology and hepatology and the official journal of the European Association for the Study of the Liver.





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