Liquid Biopsy Research

Group Leader: A/Prof Jonathan Karpelowsky

Malignant tumours often shed cells and subcellular components into a person’s body fluids. Liquid biopsy is a novel method to detect cancer biomolecules in the bloodstream or other easily sampled body fluids. Liquid biopsies hold great promise for personalized medicine due to their ability to provide multiple non-invasive global snapshots of the tumour. For many years the scarcity of circulating cancer biomarkers delayed future progress of this field. Recent technological developments changed that, pushing liquid biopsies toward the clinic. This is truly a new era in clinical oncology, in which solid tumours diagnosis and monitoring are based on a simple blood draw. Unfortunately, currently there are no liquid biopsy tests available for paediatric malignancies.

Despite significant progress made in the treatment of children with cancer, it remains the leading cause of disease related death in children, with significant short and long term morbidities due to treatment toxicity. Assessment of minimal residual disease in these cases can profoundly refine risk-directed therapy to guide treatment decisions. Identifying non-responders to current therapy, subsequently switching regimens, could save precious time as well as spare adverse side-effects resulting from a non-effective therapy. Similarly, the ability to identify early disease recurrence would enable earlier intervention and superior outcome.

At the genomic level, liquid biopsy techniques mainly focused on detecting oncogenic point mutations, as these drive the vast majority of adult cancers. However, gene fusions and amplifications are the hallmark of childhood cancers. These differences held liquid biopsy development back in this important population. The Liquid Biopsy Research Group was established in mid-2017, aiming at filling this significant gap. We are generating highly sensitive assays and innovative strategies to develop minimal residual disease testing for paediatric solid tumours in order to identify early disease recurrence and measure response to therapy.

The direct access to biological samples and clinical databases facilitates this relevant and significant translational research. Constant dialogue between clinicians and scientists is the cornerstone of our research laboratory. This integrated approach has the potential to bring personalized medicine to the forefront of patient care.

We believe that liquid biopsies are no longer a research tool, and have great potential improving cancer outcomes in children. We anticipate that this further refinement of treatment assessment would become an integral part of childhood cancer management in the very near future.