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Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure |
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| Authors: | Despina Handolias Renato Salemi William Murray Angela Tan Wendy Liu Amaya Viros Alexander Dobrovic John Kelly Grant A McArthur |
| Institution: | 1. Research Division Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia
Department of Medicine St Vincent’s Hospital, The University of Melbourne, Melbourne, Victoria, Australia;2. Molecular Pathology Research and Development Laboratory, Department of Pathology Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia;3. Molecular Pathology Research and Development Laboratory, Department of Pathology Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia;4. Research Division Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia Victorian Melanoma Service, The Alfred Hospital, Prahran, Victoria, Australia;5. Department of Dermatology, St. George’s Hospital, Tooting, London, UK;6. Molecular Pathology Research and Development Laboratory, Department of Pathology Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia Department of Pathology, University of Melbourne, Parkville, Victoria, Australia;7. Victorian Melanoma Service, The Alfred Hospital, Prahran, Victoria, Australia;8. Research Division Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia Department of Pathology, University of Melbourne, Parkville, Victoria, Australia |
| 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. |
| Keywords: | melanoma KIT mutation elastosis chronic sun damage |