Characterization of extrachromosomal circular DNAs in plasma of patients with clear cell renal cell carcinoma

Area of Science:

• Molecular Biology
• Genomics
• Cancer Research

Background:

• Extrachromosomal circular DNAs (eccDNAs) play roles in biological processes.
• The presence and characteristics of eccDNA in clear cell renal cell carcinoma (ccRCC) patient plasma are uncharacterized.
• This study aimed to identify potential plasma eccDNA markers in ccRCC.

Purpose of the Study:

• To identify and characterize plasma eccDNAs in ccRCC patients.
• To compare plasma eccDNA profiles between ccRCC patients and healthy controls.
• To screen for plasma eccDNAs with diagnostic value for ccRCC.

Main Methods:

• Plasma eccDNA was detected using Tn5-tagmentation and next-generation sequencing (NGS).
• Comparisons included eccDNA length distribution, gene annotation, junctional nucleotide motif patterns, and expression.
• Statistical analyses were performed to identify differentially expressed eccDNAs.

Main Results:

• 8,568 plasma eccDNAs were found in ccRCC patients and 8,150 in controls.
• No significant differences in length, gene annotation, or motif signature were observed between groups.
• 701 differentially expressed eccDNAs were identified, with 25 showing potential diagnostic value for ccRCC, originating from tumor-associated genes.

Conclusions:

• Plasma eccDNAs were characterized in ccRCC patients.
• Up-regulated plasma eccDNAs are proposed as promising non-invasive biomarkers for ccRCC.
• Further research may validate these eccDNAs for clinical diagnostic applications.