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European Journal of Dermatology

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Distribution and clinical role of KIT gene mutations in melanoma according to subtype: a study of 492 Spanish patients Article à paraître

Auteurs
1 Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, València, Spain
2 Department of Dermatology, Fundación Instituto Valenciano de Oncología, València, Spain
3 Laboratory of Skin Cancer and Aging, CRUK-Manchester Institute, University of Manchester, Manchester UK
4 Division of Molecular Genetic Epidemiology, Division of Genomic Functional Analysis, DKFZ, Heidelberg, Germany
5 Genomic Oncology Research Group, Centre for Systems Medicine, Department of Physiology and Medical Physics, Royal College of Surgeons in Ireland, Dublin, Ireland
6 Department of Dermatology, Hospital General Universitario de Alicante, Alicante, Spain
7 Department of Pathology, Fundación Instituto Valenciano de Oncología, València, Spain
8 School of Medicine, Universidad Católica de Valencia San Vicente Mártir, València, Spain
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Background: KIT mutations are primarily associated with acral and mucosal melanoma, and have been reported to show higher prevalence in chronic sun-damaged (CSD) than non-CSD melanomas. Objectives: To investigate the prevalence of KIT mutations in melanoma according to subtype, and determine the clinical role of such mutations. Material & Methods: We present results from a study of a Spanish population of 492 melanomas, classified according to the latest World Health Organization (WHO) guidelines. We analysed the mutational status of KIT and correlated with different clinical variables related to sun exposure and family history. Results: KIT mutations were significantly more frequent in acral (3/36; 8.3%) and mucosal (4/8; 50%) melanomas than non-acral cutaneous melanomas. No significant difference was observed in KIT mutational status between CSD and non-CSD melanomas. Conclusion: Our results suggest that KIT mutations in melanoma tumours are unrelated to the development of nevi or chronic sun damage, but their presence is associated with aggressive melanomas which show ulceration, vascular invasiveness, and increased Breslow thickness. These findings are consistent with those reported by The Cancer Genome Atlas network.