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Multicentric malignant melanoma in a grey mare: A case report.
S Stimpson1, E Molloy2, B W Davis3
1Department of Veterinary Biomedical Sciences, Long Island University - Lewyt College of Veterinary Medicine, 720 Northern Blvd., Brookville, NY 11542, USA.
Journal of Equine Veterinary Science
|March 19, 2026
Summary
Grey coat color in horses is linked to increased melanoma risk due to a gene variation. This case shows copy number variation (CNV) amplification in tumors, suggesting a role in malignant transformation and metastasis.
Area of Science:
- Veterinary Pathology
- Equine Genetics
- Oncology
Background:
- Grey coat color in horses is associated with a copy number variation (CNV) in the STX17 gene (Grey locus).
- This genetic variation increases the risk of melanoma and causes hair depigmentation.
Purpose of the Study:
- To report the clinical, pathological, and genomic findings of a grey mare with multiple melanocytic tumors.
- To investigate the role of genetic factors in melanoma development and metastasis in this case.
Main Methods:
- Clinical examination, necropsy, and histopathological evaluation of a 26-year-old mare.
- Genomic analysis of normal and tumor tissues to assess copy number variations at the Grey locus.
Main Results:
- Widespread melanocytic tumors were found in various tissues, including the heart.
- Genetic analysis revealed a G1/G3 genotype and somatic CNV expansions at the Grey locus in tumor tissue.
Conclusions:
- CNV amplification at the Grey locus may contribute to malignant transformation in equine melanoma.
- Cardiac metastasis was identified, highlighting the need for cardiac evaluation in similar cases.
- Early genetic screening and integrated assessments are crucial for understanding and managing melanoma progression.
