Unlocking the Potential of ctDNA in Sarcomas: A Review of Recent Advances

Area of Science:

• Oncology
• Genomics
• Molecular Biology

Background:

• Soft tissue sarcomas (STSs) are diverse tumors with varied genetic profiles.
• Accurate classification and detection of STSs are crucial for effective treatment.
• Current genomic profiling relies heavily on invasive tissue biopsies.

Purpose of the Study:

• To review the current applications of circulating tumor DNA (ctDNA) in soft tissue sarcomas (STSs).
• To explore the potential of ctDNA analysis as a noninvasive tool for sarcoma profiling.
• To assess the concordance of ctDNA profiling with established comprehensive genomic profiling (CGP) in STSs.

Main Methods:

• Review of existing literature on ctDNA analysis in STSs.
• Discussion of cell-free DNA (cfDNA) sequencing techniques, including whole-genome and whole-exome sequencing.
• Comparative analysis of ctDNA and tissue biopsy-based genomic profiling.

Main Results:

• ctDNA analysis provides a minimally invasive approach to tumor profiling in STSs.
• ctDNA platforms offer a promising alternative to traditional tissue biopsies.
• The concordance between ctDNA and CGP in STSs requires further characterization.

Conclusions:

• ctDNA holds significant potential for revolutionizing sarcoma classification, detection, and treatment monitoring.
• Further research is needed to fully leverage ultra-low-pass whole-genome sequencing and whole-exome sequencing of cfDNA in sarcoma patients.
• ctDNA analysis can complement existing diagnostic and therapeutic strategies for STSs.