• John Evans

Patients who develop amelanotic melanomas more likely to carry albinism mutation


Individuals who develop pale coloured, amelanotic melanomas are more likely to carry a single copy of a mutation associated with albinism, according to researchers from the University of Queensland, in Australia.


The findings were published online in PLOS One (Sept. 23, 2020).


“Albinism develops when there are two mutated genes, so people with one mutation usually don’t know they have it,” said lead author Dr. Jenna Rayner, in a press release.


“These people may be more prone to developing pale coloured melanomas, called amelanotic, because tumours accumulate new mutations, and they already have a mutated albinism gene.”


Dr. Rayner is a a dermatology registrar of the Australasian College of Dermatologists, and works at the university's Dermatology Research Centre.


In the study, the researchers examined DNA samples from more than 380 volunteers using whole exome sequencing, while looking for rare genetic mutations that cause albinism.


In the release, University of Queensland Dermatology Research Centre Associate Professor Rick Sturm said up to 8% of melanomas could be amelanotic, making them difficult to diagnose and easily mistaken for non-cancerous conditions such as warts or scars.


“Amelanotic melanomas are normally diagnosed in advanced stage, compared with darker melanomas, causing patients to often miss out on early treatment and their best chance of a cure,” he said.


The next step planned by the research team is to collect samples of amelanotic melanoma and compare the genotype of the sample to the patient's genotype. Dr Rayner said that the research could lead to personalized medicine—with doctors having a higher level of monitoring of potential amelanotic melanomas in people with one albinism gene mutation.


“This could optimize early intervention and consequently improve patient outcomes,” she said.

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