Shining a light on melanomas that aren't caused by the sun

Shining a light on melanomas that aren't caused by the sun

4 May 2017

‘Slip, slop, slap’ is synonymous with being Australian and playing it safe in the sun. These sun smart rules reduce our chances of getting melanoma of the skin. However, new research tells a different story for those affected by rarer forms of melanoma.

The genetic study, led by Australian researchers at Melanoma Institute Australia, QIMR Berghofer Medical Research Institute and The University of Sydney as part of the Australian Melanoma Genome Project, has found that melanomas on the hands and feet (known as acral) and internal surfaces (known as mucosal) are not linked to ultraviolet (UV) radiation. This is in contrast to melanoma of the skin, which is strongly related to UV radiation.

The research, published today in the prestigious Nature journal, shows that acral and mucosal melanoma have different causes to skin melanoma. This has implications for preventing and treating these forms of melanoma, which occur worldwide.

“This is by far the largest study to have looked at the whole genome in melanoma, and it has proven these less common melanomas are strikingly different in terms of their causes,” says Professor Richard Scolyer, Conjoint Medical Director of Melanoma Institute Australia and a lead author.

Every year in Australia, up to 420 people are diagnosed with acral or mucosal melanomas. They affect people of all ethnic backgrounds, and are the most common forms of melanoma in people with very dark skin. These forms of melanoma often behave more aggressively, are harder to diagnose and have a poorer outcome compared to skin melanoma.

Treatment for skin melanoma has advanced rapidly in recent years, with therapies tripling the life expectancy of some advanced melanoma patients. For the first time, this research sheds light on why revolutionary treatments—many of which have been pioneered at Melanoma Institute Australia—don’t work as well for acral or mucosal melanomas.

“Acral and mucosal melanomas occur all over the world, but they have been even more challenging to treat than skin melanoma,” says Professor Nicholas Hayward, a lead author from QIMR Berghofer Medical Research Institute. “Knowing these are really different diseases to skin melanoma is important for development of future therapies.”

The study also found acral and mucosal melanomas have much less gene damage compared with skin melanoma and the damage “footprints" did not match those of any known causes of cancer, like sun exposure. This means we must target new research to discover what is causing these cancers, and what can prevent them.

While they had fewer gene drivers that could be targeted for therapy, new ones were found. Some mucosal melanomas unexpectedly had mutations in the SF3B1 and GNAQ genes, which had previously only been connected to melanoma of the eye.

Understanding which gene mutations are driving an individual tumour is the basis of personalised cancer medicine. This is the first study to survey the entire DNA sequence of melanomas, not just the genes themselves, giving 50 times more information than in previous work. Many genes were found to have damage in their control regions, the so-called “dark matter” of our genome, and these may be previously unsuspected drivers of melanoma.

“This is a world-leading genetic analysis of melanoma,” explains Professor Graham Mann, a lead author at Melanoma Institute Australia. “We are working hard now to turn these discoveries about the uniqueness of acral and mucosal melanoma, and about the new control mutations, into better results for our melanoma patients.”

Publication: Hayward, N.K. et al. Whole-genome landscapes of major melanoma subtypes. Nature. 03 May 2017. doi: 10.1038/nature22071. [Epub ahead of print]

Download the media release:

Best practice guidelines for melanoma care go digital
28 Oct 2016

Best practice guidelines for melanoma care go digital

Best practice guidelines for melanoma care have gone digital with the first-ever online guidelines developed to adapt to the rapid change in clinical management.

Awards and honours for our talented researchers
26 Oct 2016

Awards and honours for our talented researchers

Congratulations are in order for two of our talented researchers.

5 Minutes With Prof Richard Scolyer
21 Oct 2016

5 Minutes With Prof Richard Scolyer

Professor Richard Scolyer will be sharing his expertise on melanoma pathology at the upcoming Australasian Melanoma Conference. Here he discusses what he'll be presenting on. 

Research spotlight: High Risk Clinic
10 Oct 2016

Research spotlight: High Risk Clinic

Researchers at MIA have established a High Risk Clinic to monitor people at very high risk of developing melanoma.

Learning from the best in the world
05 Oct 2016

Learning from the best in the world

A generous donation has enabled a medical oncologist from Portugal to learn from the best in the world at MIA.

Uniting the world for a cure
30 Sep 2016

Uniting the world for a cure

MIA is hosting a conference to bring together greats minds in melanoma research that will make a difference to the lives of melanoma patients

A Day in the Life of... Michelle Peranec
30 Sep 2016

A Day in the Life of... Michelle Peranec

Meet Michelle, our Translational Research Officer whose role is to connect the clinics to the lab by ensuring patient blood and tissue samples are documented and carefully stored in our BioSpecimen Bank.

Wildfire Award helps ignite new melanoma research
08 Sep 2016

Wildfire Award helps ignite new melanoma research

Dr James Wilmott says his Wildfire Award will help expand research into treatment options for people with mucosal melanoma, a rare but deadly form of skin cancer.

Opinion: Fighting the Resistance
25 Aug 2016

Opinion: Fighting the Resistance

Following the recent hype around immunotherapies in cancer, CEO Carole Renouf shares the greatest story never told… resistance… and what MIA is doing to address it.

5 Minutes With A/Prof Jennifer Wargo
11 Aug 2016

5 Minutes With A/Prof Jennifer Wargo

A/Prof Wargo discusses the research she will be presenting as a keynote speaker at the upcoming Australasian Melanoma Conference.

Dr James Wilmott awarded for outstanding cancer research
06 Aug 2016

Dr James Wilmott awarded for outstanding cancer research

Dr James Wilmott has been awarded the Wildfire award at this year's Cancer Institute NSW's Premier Awards for Outstanding Cancer Research.

Community invests in MIA's new trial
19 Jul 2016

Community invests in MIA's new trial

The community has responded generously to our recent appeal to fund a specialised nursing position in an exciting new clinical trial. 

New trial giving options
18 Jul 2016

New trial giving options

We have developed a unique clinical trial that will use existing drugs to target rare genes in melanoma patients.

Melanoma research summary from ASCO
07 Jul 2016

Melanoma research summary from ASCO

Data presented at the recent ASCO Annual Meeting showcased advances in melanoma research, particularly long-term survival data.

Our Privacy Policy has been updated
06 Jul 2016

Updated privacy policy

We value your privacy and want you to be familiar with how we collect, use and disclose your information.

Can cognitive technology assist with melanoma identification?
29 Jun 2016

Can cognitive technology assist with melanoma identification?

Melanoma Institute Australia has partnered with IBM Research in Australia to help further advance melanoma identification using cognitive technology.

'4 Questions With...' Series
24 Jun 2016

'4 Questions With...' Series

CEO Carole Renouf chats to senior clinicians and researchers as part of our "4 Questions With..." short video series. 

Stop the Spread campaign shortlisted
22 Jun 2016

Stop the Spread campaign shortlisted

MIA's 'Stop the Spread' campaign has been shortlisted in the 2016 Cannes Lions International Festival of Creativity.

Merkel Cell Carcinoma: the hidden skin cancer
22 Jun 2016

Merkel Cell Carcinoma: the hidden skin cancer

Merkel cell carcinoma is a rare but aggressive skin cancer that is often hard to diagnose.

A meeting of the minds
02 Jun 2016

A meeting of the minds

MIA's doctors are converging on Chicago this week along with 40,000 delegates from around the globe at the biggest oncology conference in the world.