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Mass Cytometry Analysis of Systemic and Local Immune Responses in Hepatocellular Carcinoma
Published on: April 25, 2025
DNA markers in molecular diagnostics for hepatocellular carcinoma
Ying-Hsiu Su1, Selena Y Lin, Wei Song
1Department of Microbiology and Immunology, Drexel University College of Medicine, 3805 Old Easton Road, Philadelphia, PA 18902, USA.
Insights
Hepatocellular carcinoma (HCC) surveillance struggles with early detection. New DNA markers in blood or urine show promise for improving screening sensitivity and identifying cancer pathways.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Hepatocellular carcinoma (HCC) is a major global cause of cancer death.
- Current HCC surveillance methods have low sensitivity, detecting only 40-50% of cases at early, curable stages.
- Limited therapeutic options and difficulty in early detection contribute to high HCC mortality.
Purpose of the Study:
- To review DNA alterations driving HCC carcinogenesis.
- To summarize the performance of peripheral (blood/urine) DNA markers for HCC screening.
- To explore potential improvements in HCC diagnosis and surveillance.
Main Methods:
- Literature review of sequencing technologies and identified DNA alterations.
- Analysis of DNA markers associated with cancer pathway activation in HCC.
- Evaluation of marker performance characteristics for peripheral screening.
Main Results:
- Sequencing technologies have identified numerous potential DNA markers for HCC diagnosis.
- Specific DNA alterations are linked to the activation of cancer pathways driving HCC.
- Peripheral DNA markers (blood/urine) are being evaluated for screening efficacy.
Conclusions:
- Novel DNA markers hold potential for enhancing early HCC detection and surveillance.
- Understanding DNA alterations can illuminate HCC carcinogenesis.
- Further research into peripheral DNA markers may improve patient outcomes.
Abstract:
Hepatocellular carcinoma (HCC) is the one of the leading causes of cancer mortality in the world, mainly due to the difficulty of early detection and limited therapeutic options. The implementation of HCC surveillance programs in well-defined, high-risk populations were only able to detect about 40-50% of HCC at curative stages (Barcelona Clinic Liver Cancer stages 0 & 1) due to the low sensitivities of the current screening methods. The advance of sequencing technologies has identified numerous modifications as potential candidate DNA markers for diagnosis/surveillance. Here we aim to provide an overview of the DNA alterations that result in activation of cancer pathways known to potentially drive HCC carcinogenesis and to summarize performance characteristics of each DNA marker in the periphery (blood or urine) for HCC screening.

