Journal of Clinical Case Reports Medical Images and Health Sciences

Central Nervous System Melanomatosis Arising In Braf V600e Mutated Neurocutaneous Melanosis: A Case Report by Barbara Valeri in Journal of Clinical Case Reports, Medical Images and Health Sciences Abstract: Neurocutaneous melanosis (NCM) is a rare congenital syndrome defined by the combination of large or giant congenital melanocytic nevi and leptomeningeal melanocytic proliferation. NCM harbors per se an increased risk, as high as 12%, of malignant transformation to melanoma, arising in the context of either the congenital nevi or the central nervous system. The vast majority (75%) of NCM is a result of somatic mosaicism due to a single postzygotic mutation involving NRAS codon 61, which can be found both in skin and central nervous system localizations. BRAF V600E mutation is present only in a minority of patients with NCM (~12.5%). Here we report the rare case of a BRAF V600E mutated NCM complicated by central nervous system melanomatosis, defined as a diffuse or multifocal meninge...