Researchers at Yonsei University College of Medicine identify the genomic and transcriptomic (all RNA) changes from pre-cancerous lesions to invasive cholangiocarcinoma./Courtesy of George Washington University

Domestic researchers have unlocked the genetic secrets of the gallbladder cancer progression process, which is difficult to detect early. There are expectations that a gene panel test analyzing genomic information will pave the way for early diagnosis of gallbladder cancer.

The National Research Foundation of Korea announced on the 11th that a research team led by Professors Park Young-nyeon and Kim Sang-woo from Yonsei University College of Medicine has identified the genetic and transcriptomic (all RNA) changes from precancerous lesions of gallbladder cancer, which has a high potential for progression to cancer, to invasive gallbladder cancer that has invaded tissues or cells. The research results were published online on Jan. 18 in the international journal "Journal of Hepatology."

Gallbladder cancer arises in the bile ducts, which are channels that transport bile made in the liver and the gallbladder, and it is a deadly cancer with a mortality rate where seven out of ten patients die within five years. In its early stages, symptoms are minimal and not distinctly separated from those of other diseases, making early detection very challenging. Research on gene mutations and expression regulation mechanisms involved in the progression process is also rare, complicating early diagnosis and targeted cancer treatment.

The research team focused on the duodenal papillary tumors in the biliary tract, known to be precursors to gallbladder cancer. By isolating and analyzing the DNA sequences from tissues of 166 patients diagnosed with papillary tumors and gallbladder cancer, they found that abnormalities in gene expression during the progression to cancer are involved in cancer development. They also uncovered that different genes are mutated depending on the location of tumor occurrence in biliary tract papillary tumors.

It was also revealed that significant oncogenic gene mutations occur even before cancer develops, primarily due to abnormalities in gene expression related to changes in the "extracellular matrix" surrounding the cells and growth factor responsiveness, transforming into invasive cancer that infiltrates surrounding tissues.

Professor Park Young-nyeon noted, "This research is the largest scale study related to gallbladder cancer, and we were able to derive three-dimensional genetic analysis results to precisely track the carcinogenic process," adding that, "In the future, it could contribute to early diagnosis by utilizing it in the development of gene testing panels."

References

Journal of Hepatology (2025), DOI: https://doi.org/doi.org/10.1016/j.jhep.2025.01.007

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