Article
Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
The Journal of investigative dermatology - 1 Mar 2024
Martin Sara Barberan, Polubothu Satyamaanasa, Bruzos Alicia Lopez, Kelly Gavin, Horswell Stuart, Sauvadet Aimie, Bryant Dale, Zecchin Davide, Riachi Melissa, Michailidis Fanourios, Sadri Amir, Muwanga-Nanyonjo Noreen, Lopez-Balboa Pablo, Knöpfel Nicole, Bulstrode Neil, Pittman Alan, Yeh Iwei, Kinsler Veronica A
Abstract excerpt
Among children with multiple congenital melanocytic nevi, 25% have no established genetic cause, of whom many develop a hyperproliferative and severely pruritic phenotype resistant to treatment. Gene fusions have been reported in individual cases of congenital melanocytic nevi. We studied 169 patients with congenital melanocytic nevi in this study, 38 of whom were double wild type for pathogenic NRAS/BRAF...
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