Pellegrini C, Raimondi S, Di Nardo L, et al. - Findings corroborated that major high-risk susceptibility genes are scarcely implicated in pediatric melanoma, and results showed that MC1R gene variants are involved especially in the children population.

• A total of 123 patients (<21 years) from nine Italian centers were examined for the CDKN2A, CDK4, POT1, MITF, and MC1R melanoma predisposing genes.

• Presence of MC1R variants in most patients (67%), and of CDKN2A pathogenic variants in 9%, MITF E318K in 2% was revealed, and none carried CDK4 or the POT1 S270N pathogenic variant.

• Significant differences were observed between sporadic melanoma patients vs familial and multiple cases.

• More frequent spitzoid histotype, location on the head/neck and upper limbs and higher Breslow thickness were the findings for melanoma in children (≤ 12 years).

• Children more commonly carried the MC1R V92M variant than adolescents.

• A high number of nevi was evident in relation to CDKN2A common polymorphisms and MC1R variants.