Mutational Analysis of Bile Cell‐Free DNA in Primary Sclerosing Cholangitis: A Pilot Study DOI Creative Commons
María Arechederra, Emil Bik, Carla Rojo

et al.

Liver International, Journal Year: 2025, Volume and Issue: 45(4)

Published: March 3, 2025

ABSTRACT Background Primary sclerosing cholangitis (PSC) is a chronic liver disease characterised by inflammation and fibrosis of the bile ducts, conferring an increased risk cholangiocarcinoma (CCA). However, detecting CCA early in PSC patients remains challenging due to limited sensitivity conventional diagnostic methods, including imaging or duct brush cytology during endoscopic retrograde cholangiopancreatography (ERCP). This study aims evaluate potential cell‐free DNA (cfDNA) mutational analysis, termed Bilemut assay, as tool for detection patients. Methods Sixty‐three undergoing ERCP biliary strictures were prospectively recruited. Bile samples collected, cfDNA was extracted analysed using Oncomine Pan‐Cancer Cell‐Free assay. Twenty healthy donors included comparison. Samples with mutant allele frequency (MAF) ≥ 0.1% considered positive. Correlations between status clinical characteristics assessed. Results analysis successful all samples. Mutations predominantly KRAS , GNAS TP53 detected 36.5% (23/63) patients, compared 10% (2/20) ( p = 0.0269). The Bilemut‐positive ‐negative comparable, though there trend towards lower prevalence inflammatory bowel group. Among diagnosed follow‐up, 75% Bilemut‐positive, suggesting association malignancy risk. Conclusions Mutational obtained from collected feasible. Implementing assay may help identify needing closer surveillance further studies.

Language: Английский

The Search for Risk, Diagnostic and Prognostic Biomarkers of Cholangiocarcinoma and their Biological and Clinicopathological Significance DOI
Rocı́o I.R. Macı́as, Hiroaki Kanzaki, Carmen Berasain

et al.

American Journal Of Pathology, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 1, 2024

Language: Английский

Citations

4
Mutational Analysis of Bile Cell‐Free DNA in Primary Sclerosing Cholangitis: A Pilot Study DOI Creative Commons
María Arechederra, Emil Bik, Carla Rojo

et al.

Liver International, Journal Year: 2025, Volume and Issue: 45(4)

Published: March 3, 2025

ABSTRACT Background Primary sclerosing cholangitis (PSC) is a chronic liver disease characterised by inflammation and fibrosis of the bile ducts, conferring an increased risk cholangiocarcinoma (CCA). However, detecting CCA early in PSC patients remains challenging due to limited sensitivity conventional diagnostic methods, including imaging or duct brush cytology during endoscopic retrograde cholangiopancreatography (ERCP). This study aims evaluate potential cell‐free DNA (cfDNA) mutational analysis, termed Bilemut assay, as tool for detection patients. Methods Sixty‐three undergoing ERCP biliary strictures were prospectively recruited. Bile samples collected, cfDNA was extracted analysed using Oncomine Pan‐Cancer Cell‐Free assay. Twenty healthy donors included comparison. Samples with mutant allele frequency (MAF) ≥ 0.1% considered positive. Correlations between status clinical characteristics assessed. Results analysis successful all samples. Mutations predominantly KRAS , GNAS TP53 detected 36.5% (23/63) patients, compared 10% (2/20) ( p = 0.0269). The Bilemut‐positive ‐negative comparable, though there trend towards lower prevalence inflammatory bowel group. Among diagnosed follow‐up, 75% Bilemut‐positive, suggesting association malignancy risk. Conclusions Mutational obtained from collected feasible. Implementing assay may help identify needing closer surveillance further studies.

Language: Английский

Citations

0