Research confirms the presence of pale melanomas associated with albinism

Research confirms the presence of pale melanomas associated with albinism

University of Queensland researchers have investigated these unusual melanomas and found that they are genetically related to albinism.

Study lead author Gina Rayner said albinism relies on two mutant genes that work together. If a person does not have a gene mutated, they will not be albino but may still be at risk of developing white melanomas.

“This is because tumors accumulate new mutations, and because they already have the mutated gene for albinism, they are halfway through getting two gene mutations,” said Dr. Rainer.

“We already knew that the risk factors for melanomas are having red or blonde hair or light eyes, but then we don’t have any personal way of knowing if someone in that group is really at risk.”

She said the results could be used to develop more personalized screening techniques for people in high-risk groups for developing rare melanomas.

This could lead to more interest in skin lesions that might otherwise be missed, said Rick Storm, associate professor at the University of Queensland Dermatology Research Center.


“Melanomas are usually diagnosed at an advanced stage, compared to darker melanomas, which causes patients to miss out on the early treatment and the best chance of cure,” he said.

“Doctors can pay more attention to these patients and they can be examined carefully to improve early intervention.”

The researchers used DNA samples from 30 volunteers with pale melanoma, as well as 300 who had a more common form of melanoma.

It was compared to a control group of over 1,000 subjects, with saliva samples taken for DNA analysis.

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Dr Rainer said they hope to secure funding in the future for further study using samples of actual tissue for pale melanomas, which will allow them a greater understanding of how they work.

She said: “We would like to obtain tissue samples from myeloid melanoma and compare them with the saliva sample from the same patient only to confirm what we have identified in this study is what we see in the tumor sample as well.” .

She reiterated that the best treatment for melanomas is prevention with the usual methods – sunscreen, avoiding prolonged exposure to the sun, wearing protective clothing and sunglasses.

The research has been published in the journal PLoS one.

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