Melanoma in children and adolescents: Analysis of susceptibility genes in 123 Italian patients

Journal of the European Academy of Dermatology and VenereologyPellegrini C, Raimondi S, Di Nardo L, et al. | October 20, 2021


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.

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