Bile Cell-Free DNA as a Tumor-Proximal Source for Molecular Profiling of Biliary Tract Cancer: A Systematic Review and Meta-Analysis.
Jun-Ha Jang, Gi Yeon Lee, Jung Won Chun et al.
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In 30 seconds
This systematic review and meta-analysis assessed bile cell-free DNA (cfDNA) for molecular profiling in biliary tract cancer. Eight studies involving 271 patients were included. Excluding two cohorts with 100% detection, the conservative pooled molecular detection rate was 59.1% (95% CI 49.0-68.7; I 2 = 50.4%). In within-study comparisons, bile cfDNA detection was higher than plasma cfDNA detection (risk ratio 1.58, 95% CI 1.19-2.10; I 2 = 0%). The authors conclude that bile may support profiling when tissue is insufficient, but heterogeneity limits its role as a stand-alone diagnostic test.
Key findings
- The conservative pooled bile cfDNA molecular detection rate was 59.1% (95% CI 49.0-68.7; I 2 = 50.4%).
- Bile cfDNA detection exceeded plasma cfDNA detection in within-study comparisons (risk ratio 1.58, 95% CI 1.19-2.10; I 2 = 0%).
- Bile-tissue concordance was 82.7% (95% CI 69.1-93.5; I 2 = 43.7%).
- Among patients with non-diagnostic biliary cytology, bile cfDNA added molecular detection in 36.6% (95% CI 26.9-46.9; I 2 = 0%).
Why it matters
Molecular profiling can inform treatment selection in advanced biliary tract cancer, but tissue may be insufficient and plasma cfDNA detection may be limited. These pooled findings suggest bile, which can be obtained during biliary interventions, may provide complementary molecular information. The variable detection estimates and study endpoints mean results should be interpreted as evidence for profiling potential, not definitive diagnostic performance.
What to keep in mind
The evidence comprised eight studies, with substantial heterogeneity in detection and endpoints; the authors note that standardized protocols and prospective multicenter validation are needed.