Extracellular Alpha-Satellite DNA in Human Plasma as a Candidate Biomarker for Bladder Cancer Detection: Preliminary...

Area of Science:

• Uro-oncology
• Molecular diagnostics
• Genomics

Background:

• Bladder cancer (BC) diagnosis lacks non-invasive biomarkers for early detection.
• Human alpha-satellite DNA (hASAT) is linked to genomic instability in cancer.
• Extracellular hASAT (ec-hASAT) in cell-free DNA is a potential diagnostic marker.

Purpose of the Study:

• To quantify plasma ec-hASAT levels in bladder cancer patients and controls.
• To evaluate the diagnostic accuracy of ec-hASAT for bladder cancer detection.
• To explore ec-hASAT as a minimally invasive biomarker for BC, including non-muscle-invasive BC (NMIBC).

Main Methods:

• Pilot study quantifying plasma ec-hASAT using nanoplate-based digital PCR.
• Inclusion of 29 BC-negative samples, 10 NMIBC patients, and 7 muscle-invasive BC (MIBC) patients.
• Statistical analysis including Mann-Whitney U test and ROC analysis.

Main Results:

• Plasma ec-hASAT copy number was significantly higher in BC patients (1138–16,097 copies/µL) than in BC-negative individuals (225–11,864 copies/µL) (p = 6.61 × 10^-7).
• ROC analysis showed an AUC of 0.944 for discriminating BC from controls.
• At a threshold of 2000 copies/µL, ec-hASAT achieved 94.1% sensitivity and 89.7% specificity for BC detection.

Conclusions:

• Plasma ec-hASAT shows potential as a minimally invasive biomarker for bladder cancer detection.
• The findings support further validation in larger prospective cohorts for clinical application.
• ec-hASAT may aid in the early diagnosis of BC, including NMIBC.