Could a simple blood test diagnose skin cancer?

15 May 2024

Diagnosing skin cancer via a simple blood test is being explored as an alternative to invasive skin biopsies in what’s believed to be a world-first study led out of Adelaide.    

Dr Zlatko Kopecki, a senior research fellow at the University of South Australia, is leading the cross-institutional pilot study thanks to funding from The Hospital Research Foundation Group, investigating the use of blood samples (or liquid biopsies) as an alternative to skin biopsies in patients with high risk of skin cancer metastasis.  

The proposal works by filtering cancer cells in the sample, where they are ‘stained’ (or identified) based on indicators in RNA molecules.

Dr Kopecki said the project was unique because it was taking already available methods and adapting it specifically to skin cancer diagnosis.  

“Using small RNA markers to identify cancers in liquid has been done for other cancers like breast cancer and prostate cancer, but markers of skin cancer have not been well defined for detecting skin cancer,” he said.  

“With collaborators from University of New South Wales (Dr Albert Mellick) and Austria’s Paracelsus Medical University (Dr Verena Wally), we have identified multiple markers specific for detection of skin cancers. This study will validate the use of these novel markers for developing a non-invasive way to diagnose skin cancer.” 

Artificial intelligence will then be used to fast track the analysis of the stained cells. 

Australia is consistently ranked among the highest countries for rates of skin cancer, with two out of three Australians having some form of skin cancer by the time they are 70 years old.   

However, survival rates are up to 98% if detected early, demonstrating the need for better ways to triage and diagnose suspicious spots.   

The Royal Adelaide Hospital’s Head of Dermatology, Dr Shireen Sidhu, who is collecting samples from patients with squamous-cell carcinoma (SCC), is also lending her expertise as a co-collaborator.   

“If a lesion is looking suspicious but the clinician is not sure, the first thing they can do is a quick blood test and then if they see cancerous cells they can assess the need for tissue excision, optimise therapy approach or detect metastatic cancer early on,” Dr Sidhu said. 

Benefits for patients with rare skin diseases   

Using skin biopsies becomes even more challenging for patients with skin conditions like Epidermolysis Bullosa (EB), a rare condition that causes the skin to easily blister.  

Because EB causes the skin to become fragile and damaged, the risk of developing skin cancers like SCC in severe cases is significantly higher compared to the general public. 

Studies show the risk of developing skin cancer for severe EB patients gets more and more likely the older they get.  

Dr Kopecki, who comes from a research background in skin blistering diseases, said death rates were high for EB patients with skin cancer.  

“In EB, the skin is constantly repairing, and this microenvironment of continual repair, fibrosis and infection eventually leads to skin cancer. By the age of 55, 78% of these patients die from aggressive skin cancer,” he said.  

“[EB patients’] general risk of getting cancer is twice the general population, so there are patients as young as six with this disease that have been caught with skin cancer.”   

Because the disease causes the skin to blister and break, Dr Kopecki said it was very difficult to distinguish between inflamed tissue or skin cancer. This study will also extend to validating developed makers in samples from EB patients.   

If successful, Dr Kopecki said liquid biopsies could significantly impact thousands of EB patients across the country through better management and early cancer detection. 

EB has been in the spotlight in 2023 after Pearl Jam lead singer Eddie Vedder teamed up with footy icons Jonathon Brown, Rory Sloane and the Adelaide Crows to raise awareness for the condition.