Somatic_mutations_in_equine_mucosal_melanoma

Primary mucosal melanoma (MM), which arise from melanocytes located in mucosal membranes, frequently present late and have a poor prognosis; ~14% 5-year survival rate. MM makes up only ~1.4% of all melanomas and it is this rarity that makes knowledge of the genetic changes that contribute to its pathogenesis limited. Melanomas are among the most common skin tumors in horses, and aggressive-type horse anal melanomas are the equine comparative equivalent of human mucosal melanoma. Thus we plan to profile the somatic alterations and mutation spectra in equine anal melanoma genomes, by extracting DNA from formalin-fixed, paraffin-embedded (FFPE) cores of lesional and non-lesional tissues of primaries as well as matching metastases, and analysing the DNA by exome sequencing. By using a cross-species comparative genomics approach we hope to be able to identify novel driver genes in mucosal melanoma.