What is the evidence currently available on the use of liquid biopsy-based biomarkers for cancer detection and monitoring?
What do we know about the current and potential future applications?
What are examples of emerging liquid biopsy-based biomarkers?
Watch the recording from the webinar held on 12 July 2023 to find out.
As an introduction to the webinar, we recommend to download and read chapter 6.7 of the 2020 World Cancer Report, “Circulating DNA and other biomarkers for early diagnosis”.
Professor Klaus PantelDirector
Institute of Tumor Biology, University Medical Center Hamburg-Eppendorf, Germany
Liquid biopsy: from discovery to clinical implementation
Liquid biopsy has been defined as the analysis of tumour cells or products released from primary or metastatic tumour tissues into the blood or other body fluids. Over the past 10 years, circulating tumour cells (CTCs), circulating tumour DNA (ctDNA), and extracellular vesicles have received enormous attention as new biomarkers and subjects of translational research. In particular, CTC research has opened new avenues for a better understanding of tumour biology in patients with cancer, including intra-patient heterogeneity and evolution towards resistance to therapy. Although CTCs and ctDNA have already been used in numerous clinical trials over the past decade, their clinical utility is still under investigation, with promising initial results. Clinical applications include early cancer detection, improved cancer staging, early detection of relapse, real-time monitoring of therapeutic efficacy, and detection of therapeutic targets and resistance mechanisms. In particular, interventional clinical studies are required to demonstrate the clinical utility of liquid biopsy, as an important prerequisite for the introduction of this new diagnostic approach into clinical practice. Moreover, assay harmonization and standardization, as conducted by international consortia such as the European Liquid Biopsy Society (ELBS; www.elbs.eu), is essential. Professor Pantel will discuss a conceptual framework of CTC and ctDNA assays and point out current challenges of CTC and ctDNA research, which might structure this dynamic field of translational cancer research.
Professor Alain R. ThierryDirector of Research
Institut de Recherche en Cancérologie de Montpellier, France
Origins, structure, and clinical applications of circulating DNA in oncology: lessons learned from recent studies and emerging approaches
The analysis of circulating DNA (cirDNA) has been one of the greatest innovations in the field of diagnostics in the past two decades. Its field of application is very wide, including prenatal diagnosis, atherosclerosis, transplantation, and cancer. Thanks to the easy standardization of pre-analytical conditions and of analytical techniques such as quantitative PCR or sequencing, analysis of cirDNA has superior assets in the routine clinical setting to the analysis of circulating tumour cells. Depending on the country, its prescription is already offered in cases of lung cancer, melanoma, or colorectal cancer in the context of companion testing. However, its potential for detecting minimal residual disease, assessing treatment resistance, detecting recurrence, and screening is becoming increasingly evident. CirDNA cannot be considered as a biopsy but as specific fragments of the genome released into the bloodstream from the cells of the human body whose structure and dynamics are increasingly identified. Thus, the study of the size and sequence of these DNA fragments (fragmentomics) has made it possible to demonstrate that the vast majority of cirDNAs are associated with mononucleosomes, and that they could make it possible to differentiate individuals with cancer. Recent studies based on cirDNA methylation have demonstrated an extremely varied but mainly a leukocyte cellular origin, but also the possibility of evaluating disease progression.
Dr Florence Le Calvez-KelmScientist, Genomic Epidemiology Branch
International Agency for Research on Cancer, Lyon, France
Urinary TERT promoter mutations (uTERTpm) as a non-invasive biomarker for the early detection of bladder cancer
Bladder cancer is the 10th most common cancer type worldwide and is one of the most challenging and expensive cancers to diagnose and treat. Its diagnosis relies on cystoscopy, an invasive and expensive procedure that might not be easily accessible in low-resource settings. IARC has developed a urine assay that detects mutations in the promoter of the TERT gene (uTERTpm) and has shown its excellent performance for the detection of bladder cancer in urine samples in two independent studies. The detection of this biomarker is simple and non-invasive and could provide a cost-effective tool to improve both early detection of bladder cancer and monitoring of recurrence. It may also open new avenues for screening of high-risk populations (individuals with haematuria, smokers, and workers exposed to bladder carcinogens).
Learn more: IARC (2022). Improving Early Detection and Clinical Management of Bladder Cancer (IARC Evidence Summary Briefs, No. 3). Lyon, France: International Agency for Research on Cancer. Available from: https://www.iarc.who.int/evidence-summary-briefs-series/.
Organized with the support of and in collaboration with the European Society for Medical Oncology (ESMO).
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