ArticleLiver international : official journal of the International Association for the Study of the Liver2025
Mutational Analysis of Bile Cell-Free DNA in Primary Sclerosing Cholangitis: A Pilot Study.
Article in Liver international : official journal of the International Association for the Study of the Liver, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Bile Cell-Free DNA as a Tumor-Proximal Source for Molecular Profiling of Biliary Tract Cancer: A Systematic Review and Meta-Analysis.Molecular diagnosis & therapy · 2026Pooled it
- 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
- 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
- Molecular endoscopy with next-generation sequencing improves diagnosis of cholangiocarcinoma in patients with extrahepatic biliary strictures.JHEP reports : innovation in hepatology · 2026Article
- A guide for establishing patient-derived organoids from bile samples obtained during endoscopic procedures and performing gene expression knockdown.Frontiers in cell and developmental biology · 2026Article
- Ultra-low-pass whole-genome sequencing of bile cfDNA in patients with biliary strictures.eGastroenterology · 2026Article
- Research progress on the role of gut microbiota dysbiosis in the pathogenesis of immune-mediated liver diseases.Frontiers in immunology · 2026Review
- Liquid biopsy in biliary tract cancers: early diagnosis, precision therapy, and prognostic evaluation.Frontiers in oncology · 2025Review
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Authors and funding
26 authors.
Funding
Abstract
backgroundPrimary sclerosing cholangitis (PSC) is a chronic liver disease characterised by inflammation and fibrosis of the bile ducts, conferring an increased risk of cholangiocarcinoma (CCA). However, detecting CCA early in PSC patients remains challenging due to the limited sensitivity of conventional diagnostic methods, including imaging or bile duct brush cytology during endoscopic retrograde cholangiopancreatography (ERCP). This study aims to evaluate the potential of bile cell-free DNA (cfDNA) mutational analysis, termed the Bilemut assay, as a tool for CCA detection in PSC patients.
methodsSixty-three PSC patients undergoing ERCP due to biliary strictures were prospectively recruited. Bile samples were collected, and cfDNA was extracted and analysed using the Oncomine Pan-Cancer Cell-Free assay. Twenty healthy liver donors were included for comparison. Samples with a mutant allele frequency (MAF) ≥ 0.1% were considered positive. Correlations between mutational status and clinical characteristics were assessed.
resultscfDNA mutational analysis was successful in all bile samples. Mutations predominantly in KRAS, GNAS, and TP53 were detected in 36.5% (23/63) of PSC patients, compared to 10% (2/20) of healthy donors (p = 0.0269). The clinical characteristics of Bilemut-positive and -negative patients were comparable, though there was a trend towards a lower prevalence of inflammatory bowel disease in the Bilemut-positive group. Among PSC patients diagnosed with CCA during follow-up, 75% were Bilemut-positive, suggesting an association between mutational status and malignancy risk.
conclusionsMutational analysis of cfDNA obtained from bile collected from PSC patients undergoing ERCP is feasible. Implementing the Bilemut assay may help identify patients needing closer surveillance and further imaging studies.
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