Abstract
The analysis of cfDNA has been applied as a liquid biopsy in several malignancies. However, its value in the diagnosis and prognosis of cholangiocarcinoma (CCA) have not been well defined. We aimed to investigate the diagnostic and prognostic values of cfDNA level and tumor-specific mutation in circulating DNA (ctDNA) in CCA. The plasma cfDNA levels from 62 CCA patients, 33 benign biliary disease (BBD) patients and 30 normal controls were quantified by fluorescent assay. Targeted probe-based sequencing of 60 genes was applied for mutation profiling in 10 ctDNA samples and their corresponding treatment-naïve tissues. cfDNA levels in CCA were significantly higher than those in BBD and normal controls. We found that cfDNA levels at 0.2175 and 0.3388 ng/µL significantly discriminated CCA from healthy controls and BBD with 88.7 and 82.3% sensitivity and 96.7 and 57.6% specificity, respectively. cfDNA levels showed superior diagnostic efficacy in detecting CCA compared to CEA and CA19-9. ARID1A (30%), PBRM1 (30%), MTOR (30%), and FGFR3 (30%) mutations were the most common. Using nine frequently mutated genes in the ctDNA samples, the diagnostic accuracy of cfDNA sequencing was 90.8%, with 96.7% average sensitivity and 72.4% specificity. This study supports the use of cfDNA as a diagnosis and prognostic biomarker for CCA.
Highlights
This article is an open access articleCholangiocarcinoma (CCA) is a malignancy that arises from epithelial cells lining the biliary tract [1]
Levels of Plasma cell-free DNA (cfDNA) Increased in Cholangiocarcinoma (CCA) Patients
As mutations found in plasma circulating DNA (ctDNA) can provide useful information for tarAs mutations found in plasma ctDNA can provide useful information for targeted therapies, we investigated if plasma ctDNA mutations could determine the treatgeted therapies, we investigated if plasma ctDNA mutations could determine the treatment selection in CCA
Summary
Cholangiocarcinoma (CCA) is a malignancy that arises from epithelial cells lining the biliary tract [1]. It is the second most common liver cancer and has recently become increasingly prevalent worldwide with a predilection for Southeast Asia. Mainly associated with chronic gallbladder, biliary tract inflammation and liver fluke infection, have been identified [1,2], of which, Opistorchis viverrini (Ov) is the dominant distributed under the terms and conditions of the Creative Commons. Liver fluke that is known to be involved in CCA development. Diagnosis of CCA at an early stage could improve long-term patient outcome [7]. Histological biopsy remains as the standard tool for diagnosis, but these are limited, due to procedural risks for disease monitoring [8,9]
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