Table 2.
Study | Target | Patients | Performance | Limitations |
---|---|---|---|---|
ctDNA mutation profiling | ||||
Kim et al.,97 2020 | 2,924 SNVs in 69 genes | 107 HCC | MLH1 is associated with poor overall survival | Single MLH1 target |
Zhou et al.,98 2020 | 1,021 gene panel (target not reported) | 97 HCC, resected | Associated with shorter disease-free survival | Single liquid biopsy |
Alunni-Fabbroni et al.,90 2019 | 597 gene panel | 13 HCC (SORAMIC trial) | cfDNA levels associated with presence of metastases and survival | Small sample size |
Oh et al.,99 2019 | VEGFA, copy number alteration | 151 HCC, 14 healthy controls | Higher cfDNA associated with shorter time to progression (sorafenib), shorter overall survival | Exploratory study |
Cai et al.,91 2019 |
CNVs and SNVs, AFP, AFP-L3, DCP |
34 HCC, resected |
High SNV and CNV correlated with shorter relapse-free survival and overall survival |
Small sample size |
ctDNA methylation profiling | ||||
Xu et al.,82 2017 | 8 markers | 1,098 HCC, 835 healthy controls | Combined prognosis score predicted worse overall survival | Short follow-up |
AFP, alpha fetoprotein; cfaDNA, cell-free DNA; CNV, copy number variants; ctDNA, circulating tumour DNA; DCP, des-γ-carboxy-prothrombin; HCC, hepatocellular carcinoma; SNV, single nucleotide variants.