Cancer is a disease of molecular changes. Before many cancers produce obvious symptoms, tumor cells can acquire alterations in DNA and RNA that influence how they grow and behave.
For hepatocellular carcinoma (HCC), researchers are investigating whether these changes can provide information beyond conventional imaging and protein biomarkers.
What Does Molecular Testing Examine?
Molecular tests can analyze DNA, RNA and other biological signals. A research area relevant to HCC involves fusion genes and fusion transcripts.
Chromosomal rearrangements sometimes join genetic material from different genes, creating a fusion gene. When expressed, the rearranged gene can produce an RNA molecule called a fusion transcript. The fusion gene is the DNA-level event; the fusion transcript is its RNA product.
Fusion Genes Can Inform Tumor Biology
Research associated with MoleculeDx has investigated fusion events including MAN2A1-FER, PTEN-NOLC1 and SLC45A2-AMACR. Experimental work has examined how selected fusion-related products may affect signaling pathways associated with cancer cell behavior.
These observations provide a biological rationale for studying fusion events as potential molecular markers. They do not by themselves establish clinical performance of a particular screening assay.
Can Fusion Transcripts Be Detected in Blood?
Published research has investigated selected fusion transcripts as circulating cell-free RNA in serum from patients with HCC. Some studies also examined matched tumor specimens to investigate whether serum findings were associated with alterations in cancer tissue.
This supports the broader concept that a blood sample may carry molecular information related to a tumor without directly sampling the tumor.
Why Measure Multiple Signals?
HCC tumors are heterogeneous. One tumor may have a molecular alteration that another does not. Multiple markers can therefore provide a broader view than a single marker alone.
Statistical and machine-learning approaches may combine quantitative measurements into a prediction model. Performance estimates should be interpreted with attention to each study's model, sample size, case mix and validation method.
Molecular Information Beyond AFP
AFP measures a protein. Fusion-transcript analysis investigates RNA signals associated with genomic rearrangements. An HCC with normal AFP may still have other molecular abnormalities, although not all tumors carry or release the same RNA signals.
The MoleculeDx Research Approach
The MoleculeDx Liver Cancer Fusion Predictor applies Fusion-detect™ technology to multiple cancer-associated fusion-transcript signals in blood. It draws on peer-reviewed research, including 2019 and 2024 studies on circulating fusion transcripts in HCC.
A molecular result alone does not establish or exclude HCC. Imaging, medical history and professional clinical evaluation remain important.
Another Window Into Cancer Biology
Molecular testing asks a different question from conventional biomarkers: what cancer-associated changes can be detected in circulating biological material? Combining that information with other findings is a promising direction for ongoing HCC research.
Research References
- Detection of fusion transcripts in the serum samples of patients with hepatocellular carcinoma. Oncotarget (2019).
- Serum Fusion Transcripts to Assess the Risk of Hepatocellular Carcinoma and the Impact of Cancer Treatment through Machine Learning. American Journal of Pathology (2024). DOI: 10.1016/j.ajpath.2024.02.017.