BRAF Mutations are Also Associated with Neurocutaneous Melanocytosis and Large/Giant Congenital Melanocytic Nevi

• DOI: 10.2350/14-10-1566-oa.1
• Publication Date: 2014-12-09T18:18:37Z
• Authors: Cláudia M. Salgado; Dipanjan Basu; Marina Nikiforova; Bruce S. Bauer; Donald Johnson; Veronica Rundell; Lorelei J. Grunwaldt; Miguel Reyes-Múgica
• Keywords: Sanger sequencing; V600E

NRAS and BRAF mutations occur in congenital melanocytic nevi (CMN), but results are contradictory. Sixty-six prospectively collected CMN patients were analyzed for Q61 using Sanger sequencing. Negative cases evaluated V600E mutation. affected 51 (77.3%), was found 5 (7.6%). mutation 29 (80.6%) of 36 giant, 16 (80.0%) 20 large, (62.5%) 8 medium-size CMN; 1 (5%) large 4 (11.4%) giant CMN. Compared to NRAS, BRAF-mutated show scattered/extensive dermal subcutaneous nodules (100% BRAF+ vs 34.8% NRAS+) (P=0.002). Neurocutaneous melanocytosis (NCM) (24.2%) 66 patients, with 12 (75.0%), 2 (12.5%), P=0.009. Two negative both (12.5%). In conclusion, although predominate, also affects large/giant (L/GCMN), NCM, a novel finding. is associated increased dermal/subcutaneous nodules. These findings open the possibility BRAF-targeted therapy some L/GCMN NCM cases.