ArticleOncology reports2019
Bile cell‑free DNA as a novel and powerful liquid biopsy for detecting somatic variants in biliary tract cancer.
Article in Oncology reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Bile Cell-Free DNA as a Tumor-Proximal Source for Molecular Profiling of Biliary Tract Cancer: A Systematic Review and Meta-Analysis.Molecular diagnosis & therapy · 2026Pooled it
- Next Generation Sequencing for the Differentiation of Benign and Malignant Biliary Strictures.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Bio-Memristor Based on Clinical Bile Samples: A Proof-of-Concept Pilot Study for Detection of Gallbladder Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Emergence of Liquid Biopsy in Precision Oncology: A Review of its diagnostic, Predictive and Therapeutic Applications in Gallbladder Cancer.Journal of gastrointestinal cancer · 2026Review
- Article
- Circulating tumor DNA in biliary tract cancers: A review of current applications.World journal of clinical oncology · 2025Review
- Diagnosis of Cholangiocarcinoma: The New Biological and Technological Horizons.Diagnostics (Basel, Switzerland) · 2025Review
- Optimization of bile preparation for liquid biopsy in cholangiocarcinoma focusing on circulating tumor DNA and protein stability.Scientific reports · 2025Article
- Mutational Analysis of Bile Cell-Free DNA in Primary Sclerosing Cholangitis: A Pilot Study.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Circulating tumor DNA in cholangiocarcinoma: current clinical applications and future perspectives.Frontiers in cell and developmental biology · 2025Review
- Liquid biopsy in biliary tract cancers: early diagnosis, precision therapy, and prognostic evaluation.Frontiers in oncology · 2025Review
- Biliary tract cancers: advances in diagnostic and management.Exploration of targeted anti-tumor therapy · 2025Review
- Integration of circulating tumor DNA in biliary tract cancer: the emerging landscape.Hepatic oncology · 2024Review
- Article
- Liquid biopsy in cancer current: status, challenges and future prospects.Signal transduction and targeted therapy · 2024Review
- Usefulness of multigene liquid biopsy of bile for identifying driver genes of biliary duct cancers.Cancer science · 2024Article
- Optimal preservation condition for the extraction of cell-free DNA from bile of patients with biliary tract cancer.Translational cancer research · 2024Article
- Recent Advancement in Diagnosis of Biliary Tract Cancer through Pathological and Molecular Classifications.Cancers · 2024Review
- Cholangiocarcinoma: Recent Advances in Molecular Pathobiology and Therapeutic Approaches.Cancers · 2024Review
- Cell-free DNA as a prognostic and predictive biomarker in resectable distal common bile duct cancer.Journal of the Chinese Medical Association : JCMA · 2023Article
Corrections and comments
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Authors and funding
24 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tissue sampling of biliary tract carcinomas (BTCs) for molecular characterization is challenging. The aim of this study was to investigate the possibility of identifying individual actionable mutations derived from bile cell‑free DNA (cfDNA) using targeted deep sequencing. Ten BTC patients, four with gallbladder carcinomas and six with cholangiocarcinomas, were enrolled in the present study. Using targeted deep sequencing with a panel of 150 tumor‑related genes, paired bile cfDNA and tumor DNA were analyzed for mutational variants individually and then compared. The present study, to the best of our knowledge, is the first to reveal that bile cfDNA is predominantly comprised of long DNA fragments, which is not the case for plasma cfDNA. Herein, paired bile cfDNA and tumors from ten BTC patients were examined using targeted deep sequencing. When comparing bile cfDNA and tumor DNA for single nucleotide variation (SNV)/insertion and deletion (Indel), the results using targeted deep sequencing revealed high sensitivity (94.7%) and specificity (99.9%). Additionally, the sensitivity of detecting a copy number variation (CNV) was 75.0%, with a specificity of 98.9%. When comparing two bile extraction methods, including percutaneous transhepatic cholangial drainage and operation, no significant difference in SNV/Indel or CNV detection sensitivity was noted. Moreover, when examining the tumor stage and incidence site, AJCC stage II and the distal bile duct both had significantly decreased CNV detection sensitivities. The present study revealed that targeted deep sequencing can reliably detect mutational variants within bile cfDNA obtained from BTC patients. These preliminary results may shed light on bile cfDNA as a promising liquid biopsy for BTC patients.
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