FEB 12, 2019 2:56 PM PST

Humans and Man's Best Friend Share Genetic Mutations in Rare Form of Melanoma

WRITTEN BY: Amy Loriaux

A recent study compared the cancer genomes of a rare form of melanoma, mucosal melanoma, in humans, dogs, and horses in order to see how this type of cancer acts across the phylogenetic tree. This is the first time this type of comparison has been done and it is hoped that the results of this study will be translatable to better treatment outcomes in humans. Dr. David J. Adams and colleagues from the Wellcome Trust Sanger Institute of Cambridge, UK, published their data in the journal Nature Communications.

Source: pexels.com

Mucosal melanoma is a rare form of melanoma associated with skin cancer. It is so rare that only around 154 of the 15,400 people diagnosed with melanoma in the UK this year will be diagnosed with mucosal melanoma. That is about 1%. This form of cancer arises from the melanocytes, which are found not only in the skin but also mucosal surfaces of the body, such as the sinuses, nasal passages, mouth, vagina, and anus. Interestingly, this type of skin cancer is unrelated to UV light exposure and typically does not present itself until the cancer is already in a late stage of progression.

When the researchers sequenced tumor-germline pairs from 46 primary human mucosal, 65 primary canine oral and 28 primary equine melanoma cases they found a recurrent number of genetic alterations, specifically the driver genes MDM2B2MKNSTRN, and BUB1B.  These genetic mutations were found across all species compared. 

What these findings tell us is that the genetic mutations that matter most to mucosal melanoma are the ones that have been conserved across species. These results demonstrate, according to Dr. Adams, who spoke with Science Daily, "These key mutations are likely to drive the cancer and could be targets for the development of new drugs".

Source: pexels.com

Researchers found similarities in the mutation profiles both in terms of the mutated driver as well as mutation number. These profiles can influence tumor behavior and response to treatment. These revelations also exposed several differences across the species. Most importantly, from a research perspective, they found that the genomes of canine melanomas lacked mutations in other key human mucosal melanoma drivers, such as SF3B1 and ATRX.

This is important to consider since dogs are often used as an animal model for melanoma. Various treatment techniques are used on dogs first to see if they will have any impact on human melanoma. The lack of complete overlap may suggest that the dog may not the best model for mucosal melanoma. Thus, these data could be used to help inform studies investigating disease pathology as well as reveal potential therapeutic treatments.

SourcesNature Communications, wikipedia.org/wiki/Melanocyte, www.sciencedaily.com

About the Author
  • I currently work at a small CRO involved in clinical trial management.
You May Also Like
JAN 31, 2021
Genetics & Genomics
Targeting Aneuploidy in Cancer Cells
JAN 31, 2021
Targeting Aneuploidy in Cancer Cells
Cancer is typically related to problems in cells' genomes that lead to uncontrolled cell growth, and the formation of tu ...
FEB 17, 2021
Cancer
On the path to eradicating racial bias in melanoma
FEB 17, 2021
On the path to eradicating racial bias in melanoma
New research published today in the American Association for Cancer Research journal Blood Cancer Discovery propose ...
FEB 23, 2021
Cancer
Quantifying cancer survivors' stress during the early months of the pandemic
FEB 23, 2021
Quantifying cancer survivors' stress during the early months of the pandemic
Approximately one-third of cancer survivors were psychologically distressed during the early months of the pandemic due ...
APR 02, 2021
Cancer
Missing link identified for "bad" cholesterol
APR 02, 2021
Missing link identified for "bad" cholesterol
New research from a team at the University of Alberta has identified the protein that is associated with low-density lip ...
MAY 06, 2021
Cancer
What accounts for the disparities in mortality rates from kidney cancer?
MAY 06, 2021
What accounts for the disparities in mortality rates from kidney cancer?
New research published in the journal Cancers attempts to address gaps in data regarding mortality risk from advanced-st ...
MAY 07, 2021
Cancer
Pandemic times haven't been fun for anyone, but they've been especially hard for cancer patients
MAY 07, 2021
Pandemic times haven't been fun for anyone, but they've been especially hard for cancer patients
The pandemic hit everyone hard on many levels; now, new research from UCSF published in Cancer reports that cancer patie ...
Loading Comments...