From the Guidelines
Liquid biopsies are a valuable diagnostic tool for cancer management, primarily used for detecting actionable genetic mutations, monitoring treatment response, and detecting disease recurrence, with the most recent evidence supporting their use in lung, breast, prostate, and colorectal cancers 1.
Indications and Uses of Liquid Biopsies
Liquid biopsies are non-invasive diagnostic tools that analyze circulating tumor DNA, cells, and other biomarkers in blood samples to guide cancer management. They are primarily indicated for:
- Detecting actionable genetic mutations that inform targeted therapy selection, particularly in lung, breast, prostate, and colorectal cancers
- Monitoring treatment response by tracking changes in tumor markers
- Early detection of disease recurrence before clinical symptoms appear
- Real-time monitoring of tumor evolution and resistance mechanisms
Key Benefits and Limitations
The technology works by detecting tumor-derived materials released into the bloodstream, offering a comprehensive view of heterogeneous tumors across multiple sites. While liquid biopsies provide valuable information with minimal patient risk, they should complement rather than replace traditional tissue biopsies when feasible, as they may have lower sensitivity for early-stage cancers with limited tumor DNA shedding 1.
Recent Evidence and Recommendations
Recent studies have highlighted the potential of liquid biopsies in cancer diagnosis and treatment, including the use of circulating DNA for analysis of tumor mutations in real-time 1. The European Liquid Biopsy Society has also provided expert consensus recommendations for reporting cfDNA-detect common EGFR mutations and the EGFR T790M resistance mutation in plasma-derived ccfDNA of patients with non-small cell lung cancer 1.
Clinical Applications
Liquid biopsies can be used to detect specific mutations like EGFR in lung cancer, guiding the use of medications like osimertinib or erlotinib, or identify emerging resistance mutations requiring treatment adjustments 1. They can also be used for early detection of disease recurrence and monitoring of tumor evolution and resistance mechanisms 1.
From the Research
Indications and Uses of Liquid Biopsies
Liquid biopsies have emerged as a valuable tool in cancer diagnosis and treatment, offering a non-invasive alternative to traditional tissue biopsies. The indications and uses of liquid biopsies include:
- Detecting cancer biomarkers, such as circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs), in the blood or other bodily fluids 2
- Monitoring cancer progression and response to treatment 3, 4
- Identifying genetic mutations that may inform treatment decisions, such as EGFR mutations in non-small cell lung cancer 3, 4
- Detecting cancer recurrence earlier than traditional methods 3
- Guiding treatment choices for patients with cancer 5
Clinical Applications of Liquid Biopsies
Liquid biopsies have various clinical applications, including:
- Differentiating unique immune checkpoint blockade response patterns using serial samples 2
- Predicting immune checkpoint blockade response based on baseline liquid biopsy characteristics 2
- Predicting response and resistance to targeted therapy and chemotherapy as well as immunotherapy 2
- Assessing shed DNA from multiple metastatic sites 2
- Analyzing prognosis and tumor burden, including after surgery 2
- Interrogating difficult-to-biopsy tumors 2
- Detecting cancer at early stages 2
Advantages and Challenges of Liquid Biopsies
Liquid biopsies offer several advantages over traditional tissue biopsies, including:
- Non-invasive and less invasive than tissue biopsies 6, 2
- Quickly providing results 4
- Allowing for serial collection and real-time monitoring of cancer progression 2 However, liquid biopsies also face challenges, such as:
- Limited sensitivity and specificity 4
- Potential for false negatives or false positives 2
- Need for standardization and validation of liquid biopsy tests 5
- Barriers to adoption and accessibility, particularly in underserved populations 5