Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond

Summary

This review discusses the clinical relevance of blood-based circulating tumor DNA (ctDNA) analysis, focusing on mutation detection for resistance and monitoring, and exploring novel avenues like methylation, fragment patterns, transcriptomics, and viral load analysis.

Key findings

• ctDNA analysis is valuable for detecting mutations related to cancer resistance and monitoring.
• cfDNA analysis offers broader insights beyond mutations, including methylation, size, transcriptomics, and viral load.
• Significant advancements have been made in sensitive and comprehensive gene interrogation of cfDNA.

Methods

• Analysis of cell-free DNA (cfDNA) in plasma.
• Detection of mutations in cfDNA.
• Analysis of cfDNA methylation status, size fragment patterns, transcriptomics, and viral load.

Limitations

• The majority of current studies focus on mutation detection, with less emphasis on other cfDNA features.
• Challenges remain in fully exploiting the potential of non-mutation cfDNA analyses.

Applications

• Noninvasive detection of mutations for therapeutic and disease monitoring.
• Identifying resistance mechanisms.
• Potential for early cancer detection and monitoring through diverse cfDNA analyses.