Mosaic BRAF fusions are a recurrent cause of congenital melanocytic naevi targetable by MEK inhibition

ABSTRACT: Among children with multiple congenital melanocytic naevi (CMN), 25% have no established genetic cause. Here, we study 169 CMN patients, 38 of whom were double wild-type for NRAS/BRAF mutations. Nineteen of these 38 patients had sufficient tissue to undergo RNAseq, which revealed mosaic BRAF fusions in 11/19 patients and mosaic RAF1 fusions in 1/19. These findings offer a genetic diagnosis to an additional group of patients opening the possibility for treatment options.

INSTRUMENT(S): Illumina HiSeq 2500

ORGANISM(S): Homo sapiens

SUBMITTER: Veronica Kinsler 

PROVIDER: E-MTAB-13182 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress