Anna is a science writer at Technology Networks. She holds a first-class honours degree in biological sciences from the University of East Anglia, before joining Technology Networks she helped organize scientific conferences.
Liquid biopsies involve the sampling and analysis of body fluids, such as blood, urine, saliva or cerebral spinal fluid, to look for signs associated with cancer or other diseases and offer several advantages over “gold standard” tissue biopsies.
This infographic takes a look at some of the benefits that liquid biopsies can offer and explores examples of recent developments in this field.
Download this infographic to discover:
How liquid biopsies compare to tissue biopsies
Ways that liquid biopsies are improving the detection and monitoring of cancers
What improvements are needed for liquid biopsies to reach their full potential
The future of liquid biopsies
Despite the advances being made, several hurdles need to be overcome before liquid biopsies can
reach their full potential and promise.
What are liquid biopsies?
What benefits do
liquid biopsies offer?
In this infographic, we take a look at the benefits liquid biopsies can offer
and explore some examples of recent developments in this field.
A liquid biopsy involves the sampling and analysis of body fluids, such as blood, urine, saliva or cerebral
spinal fluid, to look for signs associated with cancer or other diseases.
Liquid biopsies enable clinicians to collect and analyze samples which might not be possible with
“gold standard” tissue biopsies, due to the location of the tissue of interest.
These features mean that liquid biopsies can be an incredibly useful tool to provide comprehensive
information about the complexity of an individual’s disease and how it is changing over time or
responding to treatment.
Liquid biopsies can also detect markers of both interpatient and intratumor heterogeneity. This can
enable clinicians to tailor a patient’s treatment, as specific mutations can be associated with expected
responses to a particular treatment.
Liquid biopsies can be used to analyze a range
of biomarker types, including:
Whole cells, such as circulating tumor cells (CTCs)
Extracellular vesicles (EVs), such as exosomes
Cell-free DNA (cfDNA) and RNA (cfRNA), including
circulating tumor DNA (ctDNA), mitochondrial DNA
(mtDNA) and cell-free fetal DNA (cffDNA)
CTCs EVs cfDNA
Compared to standard tissue biopsies,
liquid biopsies are typically:
Able to provide
More likely to
identify rare cell
In oncology, liquid biopsies can be used for:
Primary tumor diagnosis
Minimal residual disease detection
Determination of suitability of a treatment
Tumor heterogeneity evaluation
in liquid biopsies
There is a great interest in developing liquid biopsies to harness the benefits they can offer,
particularly for improving the detection and monitoring of cancers. Recent progress in this
A novel liquid biopsy approach, ACT-Discover (Aneuploidy in
ctDNA), was shown to be 30% more sensitive than current methods
at detecting ctDNA in pancreatic cancer patients.
Researchers identified a serum biomarker specific to intrahepatic
cholangiocarcinoma, an aggressive type of liver cancer. Changes
in N-glycan were detected in blood samples just as well as in tissue
samples and could help to speed up diagnosis.
The detection of CX3CR1, a biomarker expressed on T cells, could
help to predict non-small cell lung cancer patients’ responses
to a combination of immune checkpoint inhibitor therapy and
chemotherapy. Elevated levels of the biomarker were associated
with tumor shrinkage and cancer remission.
Mutations associated with recurrent breast cancer were detected
in cfDNA by liquid biopsy a few months before recurrent cancer
was detected at a regular follow-up appointment. Researchers
were also able to assess changes in intratumoral heterogeneity.
Neoadjuvant therapy (NAT) can be added to surgery as part of
treatment approaches to esophageal squamous cell carcinoma
(ESCC) but can lead to worse outcomes in some patients. A liquid
biopsy based on a panel of mRNA and microRNA biomarkers was
developed to predict ESCC patients’ response to NAT.
More sensitive pancreatic cancer detection
Earlier detection of lethal liver cancer
Predicting chemoimmunotherapy response
Improved monitoring of breast cancer progression
Predicting resistance to NAT
In addition to cancer applications, liquid biopsies are also being pursued for other areas, including
transplant monitoring and prenatal testing.
Liquid biopsies are being investigated for their use as a tool to monitor post-transplant rejection,
infection and immunosuppression.
Currently, heart transplant patients are
monitored for signs of organ rejection by
endomyocardial biopsy. A pilot study found
that liquid biopsy results of donor-derived
cfDNA showed high homogeneity with
endomyocardial biopsy results, highlighting
the potential for a new, less-invasive method
Donor-derived cfDNA was also used to
diagnose allograft rejection in thoracic
organ transplant recipients. The cost-effective
method was able to diagnose rejection in
66.6% of patients whilst circumventing the
risk of scarring associated with repeated
Heart transplant monitoring
Allograft rejection detection
Non-invasive prenatal testing
and maternal health
During pregnancy, molecular messages pass between the mother and baby through the
placenta. These biomarkers can be detected in maternal blood and used to screen for fetal
Non-invasive prenatal testing (NIPT) offers risk-free screening for patients, avoiding
complications such as miscarriage which can be associated with traditional invasive testing
methods like amniocentesis.
Liquid biopsies are also increasingly being explored as tools for monitoring maternal health
and pregnancy-related complications.
Blood samples from pregnant
mothers were used to discover cfRNA
transcriptomic changes associated
with preeclampsia. This led to the
identification of a panel of 18 genes
that could form the basis of a liquid
biopsy test to predict preeclampsia.
Early prediction of preeclampsia
EV phenotypes and concentrations
were analyzed in women with
uncomplicated pregnancies to
create a specific EV signature. Liquid
biopsies could be developed to
identify changes in this signature that
are associated with pathological
conditions such as preeclampsia or
Extracellular vesicles as markers
of pregnancy complications
Several studies have documented
cases of maternal malignancy
being identified by NIPT, highlighting
the potential for NIPT sequencing
abnormalities to alert clinicians to
complete further investigations.
Detecting maternal cancer
Improvements are needed in:
Specificity Detecting highly specific biomarkers is necessary to
prevent misdiagnosis. Liquid biopsies must accurately distinguish
disease biomarkers from healthy markers.
Sensitivity Many of the biomarkers that liquid biopsies look for
are present at incredibly low concentrations, especially at presymptomatic stages of cancer. Technologies are needed that
can improve the detection of these “needles in haystacks”.
Standardization Efforts are needed to standardize and improve
pre-analytical tools and procedures to reduce the chances of
errors and associated suboptimal treatment decisions.
Computational analysis New tools are needed that are capable of improving data interpretation.
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