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Combining tissue and circulating tumor DNA increases the detection rate of a CTNNB1 mutation in hepatocellular carcinoma
- Source :
- BMC Cancer, Oversoe, S K, Clement, M S, Weber, B, Grønbæk, H, Hamilton-Dutoit, S J, Sorensen, B S & Kelsen, J 2021, ' Combining tissue and circulating tumor DNA increases the detection rate of a CTNNB1 mutation in hepatocellular carcinoma ', BMC Cancer, vol. 21, no. 1, 376 . https://doi.org/10.1186/s12885-021-08103-0, BMC Cancer, Vol 21, Iss 1, Pp 1-7 (2021)
- Publication Year :
- 2021
- Publisher :
- BioMed Central, 2021.
-
Abstract
- Background and aims Studies suggest that mutations in the CTNNB1 gene are predictive of response to immunotherapy, an emerging therapy for advanced hepatocellular carcinoma (HCC). Analysis of circulating tumor DNA (ctDNA) offers the possibility of serial non-invasive mutational profiling of tumors. Combining tumor tissue and ctDNA analysis may increase the detection rate of mutations. This study aimed to evaluate the frequency of the CTNNB1 p.T41A mutation in ctDNA and tumor samples from HCC patients and to evaluate the concordance rates between plasma and tissue. We further evaluated changes in ctDNA after various HCC treatment modalities and the impact of the CTNNB1 p.T41A mutation on the clinical course of HCC. Methods We used droplet digital PCR to analyze plasma from 95 patients and the corresponding tumor samples from 37 patients during 3 years follow up. Results In tumor tissue samples, the mutation rate was 8.1% (3/37). In ctDNA from HCC patients, the CTNNB1 mutation rate was 9.5% (9/95) in the pre-treatment samples. Adding results from plasma analysis to the subgroup of patients with available tissue samples, the mutation detection rate increased to 13.5% (5/37). There was no difference in overall survival according to CTNNB1 mutational status. Serial testing of ctDNA suggested a possible clonal evolution of HCC or arising multicentric tumors with separate genetic profiles in individual patients. Conclusion Combining analysis of ctDNA and tumor tissue increased the detection rate of CTNNB1 mutation in HCC patients. A liquid biopsy approach may be useful in a tailored therapy of HCC.
- Subjects :
- Male
Cancer Research
Mutation rate
Carcinoma, Hepatocellular
Hepatocellular carcinoma
Somatic evolution in cancer
lcsh:RC254-282
Predictive biomarkers
Surgical oncology
Genetics
Biomarkers, Tumor
Medicine
Humans
Digital polymerase chain reaction
Liquid biopsy
Alleles
beta Catenin
Aged
Neoplasm Staging
Aged, 80 and over
Molecular pathology
Circulating tumor DNA
business.industry
Liver Neoplasms
Liquid Biopsy
DNA, Neoplasm
Middle Aged
medicine.disease
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Oncology
Droplet digital PCR
Mutation (genetic algorithm)
Mutation
Cancer research
Female
Neoplasm Grading
business
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 14712407
- Volume :
- 21
- Database :
- OpenAIRE
- Journal :
- BMC Cancer
- Accession number :
- edsair.doi.dedup.....3f089cd53672980a86e57b42437499b7