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Article

Detection of CTNNB1 Hotspot Mutations in Cell-Free DNA from the Urine of Hepatocellular Carcinoma Patients

1
JBS Science, Inc., Doylestown, PA 18902, USA
2
Department of Internal Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan
3
Department of Surgery, National Cheng Kung University Medical College and Hospital, Tainan 701, Taiwan
4
The Baruch S. Blumberg Research Institute, Doylestown, PA 18902, USA
*
Authors to whom correspondence should be addressed.
Academic Editors: Lory Saveria Croce’ and Mauro Giuffrè
Received: 29 June 2021 / Revised: 30 July 2021 / Accepted: 11 August 2021 / Published: 14 August 2021
(This article belongs to the Special Issue Biomarkers in Hepatocellular Carcinoma)
Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths worldwide. The beta-catenin gene, CTNNB1, is among the most frequently mutated in HCC tissues. However, mutational analysis of HCC tumors is hampered by the difficulty of obtaining tissue samples using traditional biopsy. Here, we explored the feasibility of detecting tumor-derived CTNNB1 mutations in cell-free DNA (cfDNA) extracted from the urine of HCC patients. Using a short amplicon qPCR assay targeting HCC mutational hotspot CTNNB1 codons 32–37 (exon 3), we detected CTNNB1 mutations in 25% (18/73) of HCC tissues and 24% (15/62) of pre-operative HCC urine samples in two independent cohorts. Among the CTNNB1-mutation-positive patients with available matched pre- and post-operative urine (n = 13), nine showed apparent elimination (n = 7) or severalfold reduction (n = 2) of the mutation in urine following tumor resection. Four of the seven patients with no detectable mutations in postoperative urine remained recurrence-free within five years after surgery. In contrast, all six patients with mutation-positive in post-operative urine recurred, including the two with reduced mutation levels. This is the first report of association between the presence of CTNNB1 mutations in pre- and post-operative urine cfDNA and HCC recurrence with implications for minimum residual disease detection. View Full-Text
Keywords: hepatocellular carcinoma; cell-free DNA; beta-catenin; urine; mutation; recurrence hepatocellular carcinoma; cell-free DNA; beta-catenin; urine; mutation; recurrence
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MDPI and ACS Style

Lin, S.Y.; Chang, T.-T.; Steffen, J.D.; Chen, S.; Jain, S.; Song, W.; Lin, Y.-J.; Su, Y.-H. Detection of CTNNB1 Hotspot Mutations in Cell-Free DNA from the Urine of Hepatocellular Carcinoma Patients. Diagnostics 2021, 11, 1475. https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11081475

AMA Style

Lin SY, Chang T-T, Steffen JD, Chen S, Jain S, Song W, Lin Y-J, Su Y-H. Detection of CTNNB1 Hotspot Mutations in Cell-Free DNA from the Urine of Hepatocellular Carcinoma Patients. Diagnostics. 2021; 11(8):1475. https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11081475

Chicago/Turabian Style

Lin, Selena Y., Ting-Tsung Chang, Jamin D. Steffen, Sitong Chen, Surbhi Jain, Wei Song, Yih-Jyh Lin, and Ying-Hsiu Su. 2021. "Detection of CTNNB1 Hotspot Mutations in Cell-Free DNA from the Urine of Hepatocellular Carcinoma Patients" Diagnostics 11, no. 8: 1475. https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11081475

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