Bile-Based Cell-Free DNA Analysis Is a Reliable Diagnostic Tool in Pancreatobiliary Cancer

Autor:	Wolfgang Goering, Lena Haeberle, Dieter Haeussinger, Verena Keitel, Caroline Driescher, Wolfram T. Knoefel, Irene Esposito, Lisa Frohn, Katharina Fuchs, Friederike V. Opitz
Jazyk:	angličtina
Předmět:	0301 basic medicine Cancer Research Pathology medicine.medical_specialty pancreatic cancer lcsh:RC254-282 Article DNA sequencing cell-free DNA ERCP 03 medical and health sciences 0302 clinical medicine Pancreatic cancer Medicine Liquid biopsy Digital droplet pcr next generation sequencing liquid biopsy business.industry Cancer Disease monitoring lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens medicine.disease Clinical routine 3. Good health 030104 developmental biology Oncology Cell-free fetal DNA 030220 oncology & carcinogenesis cholangiocarcinoma business
Zdroj:	Cancers Volume 13 Issue 1 Cancers, Vol 13, Iss 39, p 39 (2021)
ISSN:	2072-6694
DOI:	10.3390/cancers13010039
Popis:	Currently available serum biomarkers for pancreatobiliary cancers lack sensitivity and specificity and ultimate diagnosis still requires invasive procedures for histological confirmation. The detection of tumor-specific genetic aberrations with utilization of cell free DNA (cfDNA) is a less invasive approach than traditional tissue biopsies however, it has not been implemented into clinical routine. In this study, we investigated bile as a liquid biopsy source in pancreatobiliary cancers and compared its potential as cell-free DNA source to plasma. Blood (n = 37) and bile (n = 21) samples were collected from patients affected by pancreatic ductal adenocarcinoma (PDAC) and extrahepatic cholangiocarcinoma (CCA) or with non-malignant biliary obstructions (blood n = 16 bile n = 21). Panel-based next generation sequencing (NGS) and digital droplet PCR (ddPCR) were applied for tumor mutation profiling. NGS results from matched tumor tissues (n = 29) served as comparison. Sequencing of cfDNA from bile resulted in detection of 96.2% of the pathogenic tumor mutations found in matched tissue samples. On the other hand, only 31.6% of pathogenic tumor mutations found in tissue could be detected in plasma. In a direct comparison, only half of the mutations detected in bile cfDNA were concordantly detected in plasma from the same patients. Panel NGS and ddPCR displayed comparable sensitivity. In conclusion, bile is a suitable source of cfDNA for the diagnosis of pancreatobiliary cancer and performs more reliably than plasma. Although primary diagnosis still requires histologic confirmation, bile-derived cfDNA could offer an alternative if tissue sampling is not feasible and might allow less invasive disease monitoring.
Databáze:	OpenAIRE
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