Blood Test Using Cell-free DNA Methylation for Early Detection and Management of Biliary Tract Cancers

What this Trial Is About

Biliary tract carcinoma BTC includes cancers of the gallbladder, intrahepatic cholangiocarcinoma, and extrahepatic cholangiocarcinoma. It is a highly aggressive cancer with poor outcomes, ranking sixth in gastrointestinal cancer incidence and tenth in cancer-related deaths worldwide. Because early symptoms are often absent and the disease tends to recur and spread, only about 16.5% of patients can have curative surgery, and the overall 5-year survival rate is under 5%. Early and accurate detection is crucial to improve patient outcomes. This research aims to assess the use of cell-free DNA cfDNA methylation in blood as a liquid biopsy for diagnosing and managing BTC. The study involves several groups, including healthy individuals, patients with confirmed benign biliary lesions, other gastrointestinal cancers, and those with confirmed or suspected BTC. Researchers will analyze methylation patterns in circulating tumor DNA ctDNA, a small fraction of cfDNA that carries tumor genetic and epigenetic information. This approach is studied for its potential to detect BTC early, assist in differential diagnosis, monitor prognosis, and guide therapy. Different cohorts serve as internal training, validation sets, and independent validation groups. Participants will provide blood samples and undergo clinical evaluations to measure the accuracy of the ctDNA methylation test in diagnosing BTC. The study will assess diagnostic performance by cancer subtype and stage, and ability to distinguish BTC from other conditions. Vital signs, organ function, and other health markers will be monitored to ensure participant safety. The study welcomes adults aged 18 to 80 years, with follow-up and assessments continuing until May 2026 to evaluate the tests clinical utility.

A Cell-free DNA Methylation Blood-Based Test for Biliary Tract Cancers Screening