Expression of the BRAF L597Q mutation in sporadic neurofibromas of the upper extremity.
Exp Mol Pathol
; 103(3): 276-278, 2017 12.
Article
en En
| MEDLINE
| ID: mdl-29162506
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 BRAF L597Q mutation. This study is the first to describe the BRAF L597Q 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Proto-Oncogénicas B-raf
/
Neurilemoma
/
Neurofibroma
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Exp Mol Pathol
Año:
2017
Tipo del documento:
Article
Pais de publicación:
Países Bajos