Liquid Biopsy Research

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.

The research team



> Dr Jonathan Karpelowsky, Liquid Biopsy Research Group Leader, email:

Jonathan is a Paediatric Surgical Oncologist at the Children’s Hospital at Westmead and Conjoint Associate Professor at the University of Sydney. He dedicates his clinical career to improving the outcomes of children and adolescents with solid tumours. Understanding the clinical challenges in treating cancer enables him to ask translational questions in order to improve the care of these patients. Through his basic science work on liquid biopsies he is hoping to translate this exciting novel technology to impact on treatment paradigms in children with solid tumours.

More information can be found on Jonathan's University of Sydney profile page.

> Other research team members:

  • Dr Smadar Kahana-Edwin, Research  Officer

Key publications

Elevated Preoperative Neutrophil Lymphocyte Ratio is Predictive of a Poorer Prognosis for Pediatric Patients with Solid Tumors. Nayak, A., McDowell, D., Kellie, S., Karpelowsky, J. (2017).  Annals of Surgical Oncology, 24(11), 3456-3462.

Five lessons in uncomplicated appendicitis: Can we remove the surgery?  Read, A., Xu, J., Adams, S., Karpelowsky, J. (2017). Journal of Paediatrics and Child Health, 53(11), 1127-1130.

Hirschsprung disease.  King, S., Karpelowsky, J. (2017).  ANZ Journal of Surgery, 87(10), 754.

Management for intussusception in children.  Gluckman, S., Karpelowsky, J., Webster, A., McGee, R. (2017).  Cochrane Database of Systematic Reviews, 2017 (6), 1-54.

Nonoperative management in children with early acute appendicitis: A systematic review.  Xu, J., Adams, S., Liu, Y., Karpelowsky, J. (2017).  Journal of Pediatric Surgery, 52(9), 1409-1415.

Papillary thyroid cancer in childhood: is parental screening helpful? Stephenson, C., Norlen, O., Shun, A., Karpelowsky, J., Robinson, B., Delbridge, L. (2017).  ANZ Journal of Surgery, 87(7-8), 615-618.

Patterns of reflux in gastroesophageal reflux disease in pediatric population of New South Wales.  Narayanan, S., Cohen, R., Karpelowsky, J. (2017).  Diseases of the Esophagus, 30(2), 1-8.

Pediatric transplantation: An international perspective. Collin, M., Karpelowsky, J., Thomas, G. (2017).  Seminars in Pediatric Surgery, 26(4), 272-277.

Reducing the incidence of hepatic artery thrombosis in pediatric liver transplantation: Effect of microvascular techniques and a customized anticoagulation protocol.  Ziaziaris, W., Darani, A., Holland, A., Alexander, A., Karpelowsky, J., Barbaro, P., Stormon, M., O Loughlin, E., Shun, A., Thomas, G. (2017). Pediatric Transplantation, 21(4), 1-7.

A full list of publications can be found here.