Using original nevus explant and xenograft preclinical models, we demonstrated that intradermal MEK/Akt inhibition might serve as neoadjuvant therapy for the treatment of NRAS-mutated congenital melanocytic nevi to avoid iterative surgeries.
We report the case of a newborn boy with multinodular NRAS and BRAF mutation-negative congenital melanocytic nevi and cerebral lesions compatible with congenital intraparenchymal melanosis.
Genetic analysis revealed an activating NRASQ61R mutation within the melanoma, which is more commonly associated with large or giant congenital melanocytic nevi.
Congenital melanocytic nevus (CMN) syndrome is the association of pigmented melanocytic nevi with extra-cutaneous features, classically melanotic cells within the central nervous system, most frequently caused by a mutation of NRAS codon 61.
Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system development, and melanomagenesis.In this issue, Charbel et al. demonstrate the use of highly sensitive detection techniques for recurrent but difficult-to-detect mutations in NRAS and BRAF.