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LINE-1 266/97 and ALU 260/111 Copy Number Ratios in Circulating Cell-Free DNA in Plasma as Potential Biomarkers for the Detection of Prostate Cancer: A Pilot Case-Control Study

  • 0Department of Medicine, Surgery and Health Science, University of Trieste, 34129 Trieste, Italy.
International Journal of Molecular Sciences +

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September 27, 2025

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September 27, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

New biomarkers in circulating cell-free DNA (ccfDNA) show promise for prostate cancer (PCa) detection. Digital droplet PCR analysis of ALU and LINE-1 ratios in plasma can help differentiate PCa from benign prostatic hyperplasia (BPH).

Area Of Science

  • Biochemistry
  • Molecular Biology
  • Oncology

Background

  • Prostate cancer (PCa) is a leading cause of cancer death in men globally.
  • Current prostate-specific antigen (PSA) screening lacks specificity, necessitating novel biomarkers.
  • Circulating cell-free DNA (ccfDNA) integrity and concentration are potential indicators for PCa diagnosis.

Purpose Of The Study

  • To investigate the utility of ALU and LINE-1 copy number ratios in plasma ccfDNA for differentiating PCa from benign prostatic hyperplasia (BPH).
  • To assess the concentration of ccfDNA in PCa and BPH patients using specific gene targets.
  • To evaluate the diagnostic accuracy of these markers using digital droplet PCR (ddPCR).

Main Methods

  • A blinded prospective study involving 40 PCa patients and 18 BPH patients.
  • Digital droplet PCR (ddPCR) was employed to measure ALU 260/111 bp and LINE-1 266/97 bp copy number ratios in plasma.
  • ccfDNA concentration was determined using EEF1A2 and ESR1 gene copy numbers.

Main Results

  • Significantly lower ALU 260/111 and LINE-1 266/97 copy number ratios were observed in PCa patients compared to BPH patients (p<0.05).
  • The combined ratio (ALU*LINE) demonstrated good accuracy (AUC=0.76) in discriminating between PCa and BPH.
  • ccfDNA concentration, measured by EEF1A2 and ESR1, was significantly higher in PCa patients (p<0.05).

Conclusions

  • Plasma ALU and LINE-1 copy number ratios, analyzed by ddPCR, represent a novel, reproducible, and specific method for PCa diagnosis.
  • These findings suggest a potential improvement in early PCa detection and clinical management.
  • Further validation in larger cohorts is warranted to confirm clinical applicability.

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