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Detection of CTNNB1 Hotspot Mutations in Cell-Free DNA from the Urine of Hepatocellular Carcinoma Patients
- Source :
- Diagnostics, Volume 11, Issue 8, Diagnostics, Vol 11, Iss 1475, p 1475 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- 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.
- Subjects :
- Medicine (General)
medicine.medical_specialty
recurrence
Clinical Biochemistry
Urine
medicine.disease_cause
Gastroenterology
cell-free DNA
Exon
R5-920
Internal medicine
Biopsy
medicine
Gene
Mutation
medicine.diagnostic_test
business.industry
beta-catenin
hepatocellular carcinoma
Amplicon
medicine.disease
urine
digestive system diseases
Cell-free fetal DNA
Hepatocellular carcinoma
mutation
business
Subjects
Details
- ISSN :
- 20754418
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Diagnostics
- Accession number :
- edsair.doi.dedup.....a6dd9263d894a74e04270db23eed09d4