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DNA Sequencing Reveals Mucosal Melanoma's Genetic Fingerprint

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Key Points

  • Whole genome and whole exome sequencing revealed that mucosal melanoma and cutaneous melanoma are distinct diseases with discrete genetic features.
  • There is no classic ultraviolet light signature in mucosal melanoma, which indicates that this type of cancer is not linked to sun exposure.
  • These findings may open the door to more tailored treatments for patients with this subtype of melanoma.

Scientists have found a molecular "bullseye" for a rare form of melanoma, opening up opportunities for novel targeted treatment, according to new research published in the Journal of Pathology.

Whole genome and whole exome sequencing carried out at Cancer Research UK’s Paterson Institute for Cancer Research at the University of Manchester, United Kingdom, has revealed that the genetic fingerprint of mucosal melanoma is completely different compared to its more common counterpart and has distinct clinical and epidemiologic features.

The study has also revealed for the first time the genetic faults against which new treatments could be targeted for mucosal melanoma patients.

Unlike cutaneous melanoma, for which ultraviolet light is a well-known risk factor, little is known about the causes of mucosal melanoma. This means there are no treatments that can target the cancer, leading to starkly contrasting outlooks in these two forms of the disease. Five-year survival rates for mucosal melanoma are around 40%, compared to more than 90% for cutaneous.

Potential for Targeted Treatments

“We’ve seen a completely different gene profile in mucosal melanoma,” said Richard Marais, PhD, Director of the Paterson Institute for Cancer Research and lead author of the research. “There’s no classic ultraviolet light signature, which reinforces our thoughts that this type of cancer isn’t linked to the sun and sunbeds and suggests that these types of melanoma start in different ways.… We can start to look at these newly discovered genetic faults and develop desperately needed targeted treatments for this type of melanoma.”

Nic Jones, PhD, Chief Scientist of Cancer Research UK, commented, “In effect, these two subtypes of melanoma are more like different diseases that just happen to affect the same cells. Cutaneous melanoma is strongly linked to UV exposure, number of moles, family history, and ethnicity, while mucosal melanoma doesn’t seem to be linked to these factors. But it’s usually more aggressive and more likely to spread to other parts of the body than cutaneous melanoma.… By recognizing the differences between subtypes of melanoma, we will be able to tailor treatment for patients so they have the best chance of beating the disease.”

This research was funded by Cancer Research UK’s The Catalyst Club.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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