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Journal Article
Expression of the BRAF L597Q mutation in sporadic neurofibromas of the upper extremity.
Experimental and Molecular Pathology 2017 December
The pathogenesis of neurofibromas is poorly understood outside of neurofibromatosis (NF). The BRAF proto-oncogene has been implicated in malignant peripheral nerve sheath tumors (PNSTs), however its role in neurofibromas has not been described. In this study, we identify a BRAF mutation in a 61-year old non-NF patient with a history of sporadic and recurrent neurofibromas localized to the right upper extremity. Despite repeat resections to establish local control, he developed median nerve neuropathy secondary to a 13×4cm plexiform neurofibroma. Genetic sequencing of the neurofibroma revealed the expression of a novel BRAFL597Q mutation. This study is the first to describe the BRAFL597Q mutation in PNSTs and the first to implicate a BRAF mutation in neurofibroma biology. We hypothesize that BRAF mutations may identify a molecularly-distinct subset of recurrent neurofibromas and may provide potential for targeted therapeutics.
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