ASSC Projects Highlight: Could a blood test change the management of patients with Stage IV Melanoma?


Research is underway that could change the way late-stage Melanoma patients are treated by investigating particular tumour DNA markers through a simple blood test, rather than tissue biopsy.

The study, which is funded by the Australian Skin and Skin Cancer Research Centre (ASSC), a joint venture of The University of Queensland and QIMR Berghofer Medical Research Institute, will look at cell free DNA, which is able to detect mutations occurring in the primary tumour and metastasis in a single blood sample.

The blood test has been used in predicting relapse and response to therapy in other cancers, like breast cancer. This study, led by Professor Andrew Barbour of the University of Queensland, assesses to what extent cell free DNA circulating in blood represents the genomic profile of melanoma tissue.

Co-investigator Dr Lauren Aoude, from The University of Queensland, said that “experiments so far have shown that we are able to detect tumour derived mutations in the plasma of melanoma patients.

“Further experiments are underway to refine the technique.”

A blood test for determining the tumour burden in melanoma patients has the potential to change the way patients are treated in the clinic. It has the capacity to monitor residual disease, detect early relapse and track mutational changes occurring within the tumour.

Australia has the highest incidence of Melanoma in the world, with 12036 new cases and 1617 deaths annually. Caught early (stages I and II), it can be treated with local excision, however once it progresses to stage IV disease, prognosis is poor.

Cell free DNA blood tests, could lead to stage III and IV melanoma patients with unresectable tumours being treated with a personalised medicine approach. It also could allow for a tailored treatment plan for patients with stage III tumours before they reach stage IV, to eliminate delays to therapy, and improve survival.

Media: Dr Lauren Aoude,; Melissa Kerr,