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Updated: Sep 18, 2025
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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
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Applications for Circulating Cell-Free DNA in Oral Squamous Cell Carcinoma: A Non-Invasive Approach for Detecting
Mahua Bhattacharya1, Dan Yaniv2, Dylan P D'Souza1,3
1Azrieli Faculty of Medicine, Bar Ilan University, Safed 1311502, Israel.
Cancers
|June 26, 2025
Summary
Liquid biopsy using cell-free DNA (cfDNA) shows promise for oral squamous cell carcinoma (OSCC) detection. Analysis revealed cfDNA concentration indicates tumor stage and prognosis, with genomic alterations like CNVs and viral integrations identified.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Circulating cell-free DNA (cfDNA) is a recognized prognostic marker in various cancers.
- Oral squamous cell carcinoma (OSCC) requires improved early-stage diagnostic and prognostic tools.
Purpose of the Study:
- To investigate cfDNA as a diagnostic and prognostic marker for OSCC.
- To identify genomic alterations in OSCC using cfDNA analysis.
Main Methods:
- Analysis of 30 cfDNA samples from OSCC patients, 199 public OSCC samples, and 192 normal samples.
- Deep sequencing to detect copy number variations (CNVs), single nucleotide variants (SNVs), gene fusions, and viral integrations.
- Statistical correlation analysis between healthy and OSCC patient cohorts.
Main Results:
- OSCC patient cfDNA concentration correlates with tumor stage, malignancy, and survival prognosis.
- Identified CNVs at specific chromosomal loci (1q, 2q, 3p, 3q, 8q22), including amplification of TP53 and PIK3CA.
- Discovered a novel TRMO-TRNT1 fusion gene in high-grade tumors and detected viral integrations (HPV, SV, Enterovirus).
Conclusions:
- Liquid biopsy of cfDNA is a sensitive method for detecting OSCC genomic alterations.
- cfDNA analysis holds potential for developing an accessible blood test for OSCC early detection and prognosis.
