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Background  The p.E318K variant of the Melanocyte Inducing Transcription Factor ( MITF ) has been implicated in genetic predisposition to melanoma as an intermediate penetrance allele. However, the impact of this variant on clinico-phenotypic, as well as on dermoscopic patterns features of affected patients is not entirely defined. The purpose of our study was to assess the association between the p.E318K germline variant and clinic-phenotypical features of  MITF + compared to non-carriers ( MITF −), including dermoscopic findings of melanomas and dysplastic nevi.    Methods  we retrospectively analyzed a consecutive series of 1386 patients recruited between 2000 and 2017 who underwent genetic testing for  CDKN2A ,  CDK4 ,  MC1R  and  MITF  germline variants in our laboratory for diagnostic/research purposes. The patients were probands of melanoma-prone families and apparently sporadic single or multiple primary melanoma patients. For all, we collected clinical, pathological information and dermoscopic images of the histopathologically diagnosed melanomas and dysplastic nevi, when available.    Results  After excluding patients positive for  CDKN2A / CDK4  pathogenic variants and those affected by non-cutaneous melanomas, our study cohort comprised 984 cutaneous melanoma patients, 22  MITF + and 962  MITF −.  MITF + were more likely to develop dysplastic nevi and multiple primary melanomas. Nodular melanoma was more common in  MITF + patients (32% compared to 19% in  MITF −).  MITF + patients showed more frequently dysplastic nevi and melanomas with uncommon dermoscopic patterns (unspecific), as opposed to  MITF − patients, whose most prevalent pattern was the multicomponent.    Conclusions   MITF + patients tend to develop melanomas and dysplastic nevi with histopathological features, frequency and dermoscopic patterns often different from those prevalent in  MITF − patients. Our results emphasize the importance of melanoma prevention programs for  MITF + patients, including dermatologic surveillance with digital follow-up.

Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients