[Liquid biopsy analysis using cell-free DNA (cfDNA): Opportunities and limitations]

Area of Science:

• Molecular biology
• Oncology
• Pathology

Context:

• Liquid biopsy, analyzing nucleic acids in bodily fluids, is emerging as a complementary tool in cancer precision medicine.
• Its applications include monitoring tumor burden and detecting therapeutic resistance in oncology.
• An approved use is detecting epidermal growth factor receptor (EGFR) mutations in lung cancer patients when tissue biopsy is unavailable.

Purpose:

• To present the current development status of liquid biopsy in molecular diagnostics.
• To provide a pathology-focused perspective on liquid biopsy technologies.
• To highlight the potential and challenges of liquid biopsy in cancer diagnosis.

Summary:

• Molecular analysis of nucleic acids in body fluids, or liquid biopsy, can supplement cancer diagnostics, particularly in precision medicine.
• It shows promise for monitoring tumor burden and early detection of resistance to targeted therapies.
• Despite successes like EGFR mutation detection in lung cancer, uncertainties in blood-based DNA analysis methods hinder broader routine diagnostic implementation.

Impact:

• Liquid biopsy has the potential to significantly enhance cancer management and treatment strategies.
• It offers a less invasive alternative for molecular diagnostics in oncology.
• Further validation of blood-based DNA analysis methods is crucial for its integration into routine pathology practice.