A study into the genetics of a rare eye cancer has provided new insights that scientists hope will pave the way for more effective treatments.
A study into the genetics of a rare eye cancer has provided new insights that scientists hope will pave the way for more effective treatments.

Researchers in eye melanoma breakthrough

QUEENSLAND researchers have unlocked some of the mysteries surrounding a rare form of melanoma in the eye, hopefully paving the way for the development of more effective treatments.

For the first time, scientists from the QIMR Berghofer Medical Research Institute and the Queensland Ocular Oncology Service have found that about five per cent of patients with uveal melanoma, those that occur in the iris, the coloured part of the eye, are linked to sun exposure.

Uveal melanoma is a rare form of melanoma found inside the eye. Supplied: Queensland Ocular oncology service
Uveal melanoma is a rare form of melanoma found inside the eye. Supplied: Queensland Ocular oncology service

In the world's most comprehensive genetic study of patients with uveal melanoma, the scientists also found that a well-known anti-cancer gene, named

TP53, was frequently switched off in the tumours of patients diagnosed with the eye cancer.

About 175 Australians are diagnosed with uveal melanoma annually, with the tumours biologically distinct from melanomas of the skin.

Although about half of uveal melanoma patients are successfully treated with surgery or radiotherapy to remove the tumour, there is little doctors can do to cure patients once the cancer has spread beyond the eye, which can occur years after the initial diagnosis.

But study author Kelly Brooks, a cancer biologist, said the research had opened up new targets for scientists to investigate in the search for better therapies to use once the melanoma spreads.

The study looked at the DNA of more than 100 patients with uveal melanoma, as well as the genetic sequences of their tumours. They compared the data with the patients' health outcomes.

 

Scientist Dr Kelly Brooks, of the QIMR Berghofer Medical Research Institute, who was part of a study into uveal melanoma, a rare form of melanoma in the eye.
Scientist Dr Kelly Brooks, of the QIMR Berghofer Medical Research Institute, who was part of a study into uveal melanoma, a rare form of melanoma in the eye.

Dr Brooks said the research backed previous studies that people born with mutations in the MBD4 gene were susceptible to uveal melanoma.

She said the findings, published in the journal Nature Communications, suggested immunotherapy, used in the treatment of some people with melanomas of the skin, may work in a small percentage of people with uveal melanoma, particularly those occurring in the iris and in people with MBD4 mutations.

Work is also underway into whether medications targeting the TP53 gene may act as potential therapies.

Brisbane ophthalmologist Lindsay McGrath, another author on the study, described the results as "exciting".

"We can diagnose and treat this disease in the eye but it's really difficult for us when it spreads beyond the eye because then there's not a lot we can offer," Dr McGrath said. "This research gives us hope that we'll have something in the future that will help."

Mother of two Susan Vine, 52, was diagnosed with a melanoma in her iris in 2005, requiring her to have her eye removed.

She still has yearly eye checks, ultrasounds, X-rays and blood tests to make sure the cancer has not returned.

"It's astounding how much they're moving forward in researching this area," she said.

"When I was a teenager, I never wore sunglasses. In hindsight, it wasn't mentioned in the slip, slop, slap campaign back then. I have a son and daughter in their twenties. They have eye checks and skin checks.

"They get reminded quite often."

Ms Vine urged people with uveal melanomas to join the Ocular Melanoma Australia and New Zealand Support Group on Facebook.

Originally published as Qld researchers in eye melanoma breakthrough



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