ArticleCancers2020
Bile-Based Cell-Free DNA Analysis Is a Reliable Diagnostic Tool in Pancreatobiliary Cancer.
Article in Cancers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 46 citations in OpenAlex.
- Next Generation Sequencing for the Differentiation of Benign and Malignant Biliary Strictures.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Extracellular vesicle biomarkers in pancreatic ductal adenocarcinoma: from bulk detection to single-extracellular vesicle profiling and endoscopic liquid biopsy.Journal of gastroenterology · 2026Review
- Emerging omics diagnosis of perihilar cholangiocarcinoma.Journal of gastroenterology · 2026Article
- Comprehensive Gene Panel Analysis of Biliary Tract Cancer Using Next-Generation Sequencing of Endoscopic Transpapillary Brushing/Biopsy/Aspiration Specimens: A Narrative Review.Diagnostics (Basel, Switzerland) · 2026Review
- Review
- Review
- Circulating Tumor DNA in Cholangiocarcinoma: A Precision Oncology Roadmap.Cancer management and research · 2026Review
- Ultra-low-pass whole-genome sequencing of bile cfDNA in patients with biliary strictures.eGastroenterology · 2026Article
- KRAS Copy Number Gain in Cell-Free DNA Analysis-Based Liquid Biopsy of Plasma and Bile in Patients with Various Pancreatic Neoplasms.International journal of molecular sciences · 2025Article
- Morphologic and molecular diagnostic criteria of malignancies in biliary strictures.Histology and histopathology · 2025Review
- Mutational Analysis of Bile Cell-Free DNA in Primary Sclerosing Cholangitis: A Pilot Study.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Cholangiocarcinoma: The era of liquid biopsy.World journal of gastroenterology · 2025Review
- Comprehensive landscape and oncogenic role of extrachromosomal circular DNA in malignant biliary strictures.Cell & bioscience · 2025Article
- Liquid biopsy in biliary tract cancers: early diagnosis, precision therapy, and prognostic evaluation.Frontiers in oncology · 2025Review
- Circulating tumor DNA in cholangiocarcinoma: current clinical applications and future perspectives.Frontiers in cell and developmental biology · 2025Review
- Biliary tract cancers: advances in diagnostic and management.Exploration of targeted anti-tumor therapy · 2025Review
- Genetic Uncertainties Fueling Cholangiocarcinoma Progression.Current genomics · 2025Review
- Integration of circulating tumor DNA in biliary tract cancer: the emerging landscape.Hepatic oncology · 2024Review
- Usefulness of multigene liquid biopsy of bile for identifying driver genes of biliary duct cancers.Cancer science · 2024Article
- Optimal preservation condition for the extraction of cell-free DNA from bile of patients with biliary tract cancer.Translational cancer research · 2024Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Currently available serum biomarkers for pancreatobiliary cancers lack sensitivity and specificity and ultimate diagnosis still requires invasive procedures for histological confirmation. The detection of tumor-specific genetic aberrations with utilization of cell free DNA (cfDNA) is a less invasive approach than traditional tissue biopsies; however, it has not been implemented into clinical routine. In this study, we investigated bile as a liquid biopsy source in pancreatobiliary cancers and compared its potential as cell-free DNA source to plasma. Blood (n = 37) and bile (n = 21) samples were collected from patients affected by pancreatic ductal adenocarcinoma (PDAC) and extrahepatic cholangiocarcinoma (CCA) or with non-malignant biliary obstructions (blood n = 16; bile n = 21). Panel-based next generation sequencing (NGS) and digital droplet PCR (ddPCR) were applied for tumor mutation profiling. NGS results from matched tumor tissues (n = 29) served as comparison. Sequencing of cfDNA from bile resulted in detection of 96.2% of the pathogenic tumor mutations found in matched tissue samples. On the other hand, only 31.6% of pathogenic tumor mutations found in tissue could be detected in plasma. In a direct comparison, only half of the mutations detected in bile cfDNA were concordantly detected in plasma from the same patients. Panel NGS and ddPCR displayed comparable sensitivity. In conclusion, bile is a suitable source of cfDNA for the diagnosis of pancreatobiliary cancer and performs more reliably than plasma. Although primary diagnosis still requires histologic confirmation, bile-derived cfDNA could offer an alternative if tissue sampling is not feasible and might allow less invasive disease monitoring.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.