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Updated: Apr 14, 2026
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
Published on: November 2, 2013
Human endogenous retrovirus profiling reveals heterogenous expression in cutaneous melanoma
Tongyi Fei1, Bhavya Singh1,2, Nicholas Dopkins1,3,4,5
1Division of Infectious Diseases, Department of Medicine, Weill Cornell Medicine, New York, NY, United States.
Background:
Cutaneous melanoma (CM) is a cancer of the pigment-producing melanocytes of the skin. Advances in treatment with immune checkpoint inhibitors (ICI) have greatly improved the outcomes, although not all patients with CM respond to ICI. Emerging evidence shows that ICI responsiveness is correlated with the expression of certain human endogenous retroviruses (HERVs). We aimed to investigate the relationships between HERV expression and outcomes in patients with CM.
Methods:
We characterized HERV expression from 330 patients with primary or metastatic CM using Telescope, a computational software package that calculates the expression of HERV loci from bulk RNA sequencing datasets.
Results:
We found that HERVs expression differed between primary and metastatic CM. Using HERV expression alone, three subtypes of metastatic CM had distinct survival outcomes. Among the differentially expressed HERV loci in metastatic and treatment non-responders, we identified HERV-FRD which has the potential to produce the endogenous retrovirus group V Env polyprotein (syncytin-2) precursor.
Conclusion:
Our analyses demonstrate the unique features of HERV expression in CM metastases and in ICI responsiveness. These exploratory findings identify modulated HERVs in CM, and further studies should be developed to determine whether HERV expression has any predictive or clinical utility.
Insights
Human endogenous retroviruses (HERVs) expression differs in cutaneous melanoma (CM) subtypes and predicts treatment response. HERV-FRD, a key retroviral gene, shows potential for predicting outcomes in metastatic CM patients.
Area of Science:
- Oncology
- Genomics
- Immunology
Background:
- Cutaneous melanoma (CM) is a skin cancer originating from melanocytes.
- Immune checkpoint inhibitors (ICIs) have improved CM treatment, but response rates vary.
- Human endogenous retroviruses (HERVs) expression is increasingly linked to ICI responsiveness.
Purpose of the Study:
- To investigate the correlation between HERV expression and clinical outcomes in CM patients.
- To explore the potential of HERVs as biomarkers for treatment response in CM.
Main Methods:
- Utilized Telescope software to analyze HERV expression from bulk RNA sequencing data of 330 CM patients.
- Characterized HERV expression patterns in primary and metastatic CM.
- Identified differentially expressed HERV loci associated with treatment non-response.
Main Results:
- HERV expression profiles varied significantly between primary and metastatic CM.
- HERV expression alone distinguished three metastatic CM subtypes with different survival rates.
- HERV-FRD, a HERV locus, was identified as differentially expressed in metastatic CM and ICI non-responders, potentially producing syncytin-2.
Conclusions:
- HERV expression exhibits unique patterns in CM metastases and correlates with ICI response.
- Modulated HERVs in CM present potential as predictive biomarkers.
- Further research is warranted to establish the clinical utility of HERV expression in CM management.
