Liquid biopsy of bile for the molecular diagnosis of gallbladder cancer

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 pa...

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Bibliographic Details
Published in:Cancer biology & therapy 2018-10, Vol.19 (10), p.934-938
Main Authors: Kinugasa, Hideaki, Nouso, Kazuhiro, Ako, Soichiro, Dohi, Chihiro, Matsushita, Hiroshi, Matsumoto, Kazuyuki, Kato, Hironari, Okada, Hiroyuki
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
bile
Bile - metabolism
Biomarkers, Tumor
Circulating Tumor DNA
CtDNA
DNA, Neoplasm
Female
gallbladder cancer
Gallbladder Neoplasms - diagnosis
Gallbladder Neoplasms - genetics
Gallbladder Neoplasms - metabolism
Gallbladder Neoplasms - mortality
High-Throughput Nucleotide Sequencing
Humans
liquid biopsy
Liquid Biopsy - methods
Male
Middle Aged
Mutation
Neoplasm Staging
Prognosis
Research Paper
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Summary: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.
ISSN:1538-4047
1555-8576
DOI:10.1080/15384047.2018.1456604