Liquid biopsy of bile for the molecular diagnosis of gallbladder cancer

Hideaki Kinugasa, Kazuhiro Nouso, Soichiro Ako, Chihiro Dohi, Hiroshi Matsushita, Kazuyuki Matsumoto, Hironari Kato, Hiroyuki Okada

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)


Introduction: Tissue sampling of gallbladder cancer (GBCa) is challenging because of the anatomy of the gallbladder. The aim of this study is to investigate the possibility of diagnosing GBCa patients by performing a liquid biopsy of bile in addition to current diagnostic methods. Methods: Thirty patients with GBCa were enrolled in this study. Cytological examination was performed in all patients. Using next generation sequencing (NGS), DNA isolated from the bile and tumor tissue was analyzed for mutations in 49 oncogenes. We also compared these mutations with cytology results. Results: 57.1% of DNA samples from tumor tissue were positive for a mutation. In these patients, 87.5% of the bile circulating tumor DNA (ctDNA) samples had the same mutation. The concordance rate between bile ctDNA and tissue DNA samples was 85.7%, and the mutation frequencies detected in ctDNA were approximately half of what was detected in tumor tissue DNA. On the other hand, the sensitivity of the cytological and bile ctDNA analyses was 45.8% and 58.3%, respectively. The concordance rate between cytology and bile ctDNA analyses was 87.5%. Conclusions: Mutated tumor DNA could be detected in bile by NGS. Liquid biopsy of bile might help us to diagnose GBCa because of higher sensitivity and positive predict value compared to cytology with ERCP.

Original languageEnglish
Pages (from-to)934-938
Number of pages5
JournalCancer Biology and Therapy
Issue number10
Publication statusPublished - Oct 3 2018


  • CtDNA
  • bile
  • circulating tumor DNA
  • gallbladder cancer
  • liquid biopsy

ASJC Scopus subject areas

  • Molecular Medicine
  • Oncology
  • Pharmacology
  • Cancer Research


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