title: Mutation analysis and gene expression profiling of ocular melanomas in cats.
abstract: Feline ocular melanomas show a high malignant behaviour, but adjunctive therapies are non-existent. The aim of this pilot study was to determine, whether feline ocular melanomas harbour mutations comparable to mutations in human melanomas and to evaluate the gene expression status of genes known to be involved in initiation and progression of human melanomas. Mutation hotspot regions of several genes of feline ocular melanomas were analysed by DNA sequencing and RNA expression levels of the respective genes and others were evaluated by quantitative real-time polymerase chain reaction (RT-qPCR). Common mutations found in human melanomas are not present in feline tumours. Gene expression analysis revealed a significant upregulation of KIT and LTA4H, as well as a downregulation of GNAQ, GNA11, BRAF and RASSF1 in feline ocular melanomas. As KIT seems to harbour a potential as target gene in human uveal melanomas, future studies should further investigate the potential of KIT as target for adjunctive therapy in feline ocular melanomas.
authors.affiliation: Department for Companion Animals and Horses, Vetmeduni Vienna, Vienna, Austria.
authors.forename: J G
authors.initials: JG
authors.lastname: Rushton
authors.affiliation: VetCore Facility for Research, Vetmeduni Vienna, Vienna, Austria.
authors.forename: R
authors.initials: R
authors.lastname: Ertl
authors.affiliation: VetCore Facility for Research, Vetmeduni Vienna, Vienna, Austria.
authors.forename: D
authors.initials: D
authors.lastname: Klein
authors.affiliation: Department for Companion Animals and Horses, Vetmeduni Vienna, Vienna, Austria.
authors.forename: B
authors.initials: B
authors.lastname: Nell
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics* / Q000378:metabolism; D002415:Cats; D005134:Eye Neoplasms / Q000235:genetics / Q000378:metabolism / Q000662:veterinary*; D005260:Female; D020869:Gene Expression Profiling / Q000662:veterinary; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D008297:Male; D008545:Melanoma / Q000235:genetics / Q000378:metabolism / Q000662:veterinary*; D009154:Mutation / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction / Q000662:veterinary
keywords: eye; feline; gene expression; iris; melanoma; mutation