Overall, in this MITF-E318K carrier, the two most relevant somatic events involving additional predisposition genes were at CNA level and included amplification of 3p13 region containing MITF-E318K, with concomitant loss of the wild-type allele in all lesions, and homozygous deletion of a 9p21.3 region containing CDKN2A and other genes in one of the tumor lesions. This evidence concerns the gene MITF and neoplasm.