Next Generation Sequencing for the Differentiation of Benign and Malignant Biliary Strictures
In brief
Adding NGS to biopsy raises malignant biliary stricture detection to 78%
In a real-world series, next-generation sequencing of endoscopic biopsies identified cancer in 65% of strictures, outperforming standard pathology's 52% while maintaining similar specificity. When NGS results were combined with histopathology, sensitivity climbed to 78% without losing accuracy. These findings suggest NGS could become a routine adjunct, but larger studies are needed to confirm its impact on patient management.
- Journal
- Liver international : official journal of the International Association for the Study of the Liver (Q1)
- Published
- 1 October 2026
- Study design
- Cross-sectional study
- Evidence level
- Level 3, Low (CEBM 3b)
- Authors
- Antonia Gillmeister, Julia Husman, Renate Schmelz, Stefan Brückner, Jochen Hampe, Daniela Aust, et al.
- PMID
- 42698384
- DOI
- 10.1111/liv.70865
Why clinicians should know about it
- Picked for Pathology and Forensic Medicine (paper of the day, 8 September 2026): NGS improves malignant biliary stricture diagnosis
Abstract
The differentiation between benign and malignant biliary strictures remains a significant clinical challenge. Recent studies have suggested that next generation sequencing (NGS) can improve the diagnostic accuracy. However, evidence on its performance in routine clinical practice is limited. Therefore, validation of the diagnostic value of NGS using real-world clinical data is warranted. We compared the performance of NGS analysis of cholangiocellular carcinoma (CCC)-associated mutations in endoscopic biopsies with that of histopathology, CA19-9 and cross-sectional imaging. NGS showed higher sensitivity for malignancy (65%) compared to histopathology (52%) at similar specificity (96% vs. 100%). The combination of NGS and histopathology further increased sensitivity for malignancy to 78% (p = 0.03) at similar specificity (96%). Our data provide support for the use of NGS in the diagnostic workup of biliary strictures.
Abstract as published, via PubMed.
For healthcare professionals. The summary is generated by AI from the published abstract, and the evidence level is assigned automatically from the study design on the Oxford CEBM hierarchy. Neither is medical advice. Read the full paper before changing practice.