Next-generation sequencing improves the detection of malignant biliary strictures and changes management

Area of Science:

• Gastroenterology and Hepatology
• Molecular Diagnostics
• Oncology

Background:

• Malignant biliary strictures (MBSs) present diagnostic challenges due to indeterminate initial sampling results.
• Next-generation sequencing (NGS) offers potential for improved MBS detection.
• Real-world performance of NGS in biliary strictures requires evaluation.

Purpose of the Study:

• To assess standard sampling techniques alone and with NGS (BiliSeq) for malignancy detection in biliary strictures.
• To evaluate the impact of NGS on management decisions for MBS patients.

Main Methods:

• Retrospective cohort study of 77 patients with biliary strictures undergoing ERCP with BiliSeq.
• Calculated sensitivity, specificity, PPV, and NPV for BiliSeq and standard tests.
• Assessed clinical impact by identifying MBS patients with negative cytology/pathology correctly identified by BiliSeq.

Main Results:

• BiliSeq sensitivity for malignancy was 75%, outperforming cytology/biopsy (42.9%).
• Combining BiliSeq with cytology/biopsy increased sensitivity to 85.7%.
• In MBS patients with negative initial pathology (n=16), BiliSeq altered management in 75%.

Conclusions:

• NGS combined with pathologic evaluation significantly enhances MBS detection sensitivity.
• NGS-based testing leads to critical management changes in a majority of cases with initially negative pathology.
• BiliSeq demonstrates clinical utility in diagnosing challenging malignant biliary strictures.