Table 3 Common biomarkers of ctDNA for HCC
From: Current status of ctDNA in precision oncology for hepatocellular carcinoma
Targeted genes | Classification | Description of alteration | Positive Rate | Relevant pathway | Main finding | Potential blockade agent | Reference |
|---|---|---|---|---|---|---|---|
TP53 | Suppressor | Inactivating mutation/ Homozygous deletion | 32% | P53 signaling pathway | Patients more likely to have high AFP values or high HBV virus loads and increased quantities of hepato-carcinogenic risk factors, in addition to a poor prognosis | Bevacizumab, Wee1 inhibitors | |
TERT | Oncogene | Promoter mutation/ amplification/ translocation | 51% | Telomere maintenance | Patients are more prone to suffer from vascular invasion, an advanced TNM stage (p < 0.0001), large intrahepatic tumor size, high des-gamma carboxyprothrombin value, and increased mortality | GRN163L, BIBR1532, or some RNA interference | |
CTNNB1 | Oncogene | Activating mutation | 17% | WNT signaling pathway | Mutated CTNNB1 will help to stimulate gene expression, causing cell proliferation, anti-apoptosis and angiogenesis | Small-molecular blockades LGK874, OMP-54F28 … | |
AXIN | Suppressor | Inactivating mutation/ Homozygous deletion | 6% | WNT signaling pathway | As a member of the core component of the “β-catenin destruction complex” | Small molecular blockade XAV939 | |
CDKN2A | Oncogene | Inactivating mutation/ Homozygous deletion | 7% | Cell cycle | The mutation is correlated with an advanced stage and aggressive biological behaviors | Palbociclib | [70] |
ARID1A | Suppressor | Inactivating mutation | 14.3% | SWI/SNF complex related pathway | There is a dual role of the ARID1A gene in tumorigenicity and cancer suppression for different temporal and cellular background in HCC | – | [71] |
ARID2 | Suppressor | Inactivating mutation | 6% | SWI/SNF complex related pathway | There is a dual role of the ARID2 gene in tumorigenicity and cancer suppression for different temporal and cellular background in HCC | – | [60] |
RASSF1A | Oncogene | Methylation | 36%(47) | MAPK/RAS signaling pathway | RASSF1A were shown to be closely related to HCC initiation and progression | – | [72] |
SEPT9 | Suppressor | Methylation | 94.1%(48) | Cell division | SEPT9 are associated with early detection and poor prognosis of HCC tumors | – | [73] |