Developing a Cancer of Unknown Primary (CUP) test

Developing a Cancer of Unknown Primary (CUP) test
Associate Professor Richard Tothill from the University of Melbourne Centre for Cancer Research is partnering with Professor Sarah-Jane Dawson and clinicians and researchers at the Peter MacCallum Cancer Centre to develop a rapid multi-omic liquid biopsy blood test utilising whole genome sequencing to resolve the difficult diagnosis of cancer of unknown primary origin.

Lead: Associate Professor Richard Tothill, University of Melbourne Centre for Cancer Research and Department of Clinical Pathology

Key partner: Professor Sarah-Jane Dawson, Medical Oncologist and Clinician Researcher, Peter MacCallum Cancer Centre and University of Melbourne Centre for Cancer Research

To develop an effective treatment plan that targets cancer’s Achilles heel, you need to know where in the body it originated from. Once a cancer has begun to spread, that epicentre can be difficult to pinpoint. 

Even after extensive testing, patients with cancer of unknown primary (also known as CUP), are left in a limbo of diagnostic uncertainty. They may be unable to access precision cancer care orMedicare funded treatments that require a confirmed cancer type diagnosis, with the uncertainty also contributing to a patient’s psychological distress.  

There are more than 2,500 new CUP cases reported each year in Australia, making it the 14th most common cancer diagnosis. It is also the sixth most common cause of cancer-related death, with only 13 per cent of patients surviving five years or more.  

Associate Professor Richard Tothill’s team at the University of Melbourne is working inclose partnership with Professor Sarah-Jane Dawson and clinicians and researchers at the Peter MacCallum Cancer Centre to develop a DNA-based blood test for CUP patients.  

“Genomic sequencing can help guide diagnosis in cases where we don’t know where in the body a patient’s cancer has originated from, providing valuable new information that can be used to create the most effective treatment plan.”
Associate Professor Richard Tothill

The new CUP blood test will use data generated by TAGC’s Genomics Platform in combination with advanced analytical methods to accurately predict where a patient’s cancer originated by detecting small amounts of cancer-specific DNA released from tumour cells into the bloodstream. 

The test will speed up the time to primary cancer diagnosis for an underserved patient group who are significantly disadvantaged by inequitable access to treatments, sparing them the anguish of prolonged diagnostic uncertainty. 

This project builds on research from the collaborative SUPER and SUPER-NEXT studies, utilising state-of-the-art genomic approaches to help resolve the cancer tissues of origin and identify potential targeted treatment approaches – with many treated through clinical lead Professor Linda Mileshkin’s specialised CUP clinic at the Peter MacCallum Cancer Centre.

Genomics-driven healthcare is in the process of revolutionising how biomedical science diagnoses, treats, cures and prevents disease around the world.