Bile-Derived cfDNA of Syncytin-1 and SLC7A11 as a Potential Molecular Marker for Early Diagnosis of Cholangiocarcinoma

• DOI: 10.1007/s12029-025-01180-5
• Publication Date: 2025-01-28T17:07:15Z
• Authors: Jing He; Jingrong Qian; Xin Li; Xiaoyue Zhao; Weiwei Meng; Xuewei Zhuang

Abstract Background: Bile circulating free DNA (cfDNA) as a novel liquid biopsy method for the early clinical diagnosis of cholangiocarcinoma (CCA) has been less reported. Methods: We collected bile samples from 51 patients with CCA and 48 patients with gallstones at Shandong Provincial third Hospital from September 2022 to December 2023. We quantified bile cfDNA of syncytin-1 and SLC7A11,calculated the correlation bySpearman rank correlation, plotted Receiver Operating Characteristic (ROC) curves, and compared the Area Under Curve (AUC) values to explored early diagnostic utility in patients. Results: We first found the bile cfDNA of syncytin-1 and SLC7A11 levels in CCA were higher than in gallstones (p < 0.001; p < 0.001). And there was significant correlation between syncytin-1 and SLC7A11 expression (Spearman ’r = 0.458, p < 0.001). The AUC of bile cfDNA of syncytin-1 was 0.891(specificity of 90.2% and sensitivity of 75.0%), the AUC of bile cfDNA of SLC7A11 was 0.793 (specificity of 80.4% and sensitivity of 72.9%), and combination of bile cfDNA of syncytin-1/SLC7A11/CA19-9 markers improved diagnostic efficiency in CCA patients (AUC:0.901, p < 0.001). Conclusion: The bile cfDNA of syncytin-1 and SLC7A11 was high expression in cholangiocarcinoma, which may be used as a novel biomarker for early diagnosis.