title: Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure.
abstract: In melanoma, mutations in KIT are most frequent in acral and mucosal subtypes and rarely reported in cutaneous melanomas particularly those associated with intermittent UV exposure. Conversely melanomas arising within chronic sun damaged skin are considered to harbour KIT mutations at higher rates. To characterize the frequency of KIT mutations in a representative melanoma population, 261 patients from two Australian melanoma centres were prospectively screened for mutations in exons 11, 13 and 17 of the KIT gene. A total of 257 patients had cutaneous melanoma arising from non-acral sites and four were acral melanomas. No mucosal or ocular melanomas were analysed. KIT mutations were identified in five tumours (2% of the entire cohort) including two acral melanomas. Two of the three non-acral melanomas with KIT mutations were associated with markers of chronic sun damage as assessed by the degree of skin elastosis. In the remaining cohort, 43% had chronically sun damaged skin. This report confirms that within an Australian population, KIT mutations are infrequent in cutaneous melanomas associated with both intermittent and chronic sun exposed skin.
authors.affiliation: Research Division Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia.
authors.forename: Despina
authors.initials: D
authors.lastname: Handolias
authors.forename: Renato
authors.initials: R
authors.lastname: Salemi
authors.forename: William
authors.initials: W
authors.lastname: Murray
authors.forename: Angela
authors.initials: A
authors.lastname: Tan
authors.forename: Wendy
authors.initials: W
authors.lastname: Liu
authors.forename: Amaya
authors.initials: A
authors.lastname: Viros
authors.forename: Alexander
authors.initials: A
authors.lastname: Dobrovic
authors.forename: John
authors.initials: J
authors.lastname: Kelly
authors.forename: Grant A
authors.initials: GA
authors.lastname: McArthur
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D016296:Mutagenesis / Q000528:radiation effects*; D009154:Mutation / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D023422:Skin Irritancy Tests; D012878:Skin Neoplasms / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D013997:Time Factors; D014466:Ultraviolet Rays
chemical_list: D019009:Proto-Oncogene Proteins c-kit