NGS combined with histopathology boosts sensitivity for malignant biliary strictures
The study evaluates next-generation sequencing of cholangiocarcinoma-associated mutations in endoscopic biopsies to differentiate benign from malignant biliary strictures in a clinical setting. Investigators found that NGS alone achieved 65% sensitivity for malignancy compared to 52% for conventional histopathology, with comparable specificity (96% versus 100%). Pairing NGS with histopathology raised sensitivity to 78% while maintaining 96% specificity (p = 0.03). These results support integrating molecular mutation profiling into the routine diagnostic algorithm for biliary strictures, offering pathologists and clinical laboratories a more sensitive adjunct to tissue sampling and serum biomarkers.
The original study
Next Generation Sequencing for the Differentiation of Benign and Malignant Biliary Strictures.
- Authors
- Gillmeister A, Husman J, Schmelz R, Brückner S, Hampe J, Aust D, et al.
- Journal
- Liver international : official journal of the International Association for the Study of the Liver
- Type
- Journal Article
- PMID
- 42698384
Original 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.