Article
Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma.
Genes, chromosomes & cancer - 1 Sept 2012
Beert Eline, Brems Hilde, Renard Marleen, Ferreiro Julio Finalet, Melotte Cindy, Thoelen Reinhilde, De Wever Ivo, Sciot Raf, Legius Eric, Debiec-Rychter Maria
Abstract excerpt
Plexiform neurofibromas are a major cause of morbidity in individuals with neurofibromatosis type 1 (NF1). Sporadically, these tumors appear as an isolated feature without other signs of NF1. A role for the NF1 gene in solitary plexiform neurofibromas has never been described. In this study, we report a 13-year-old boy who was diagnosed with a plexiform neurofibroma, without other NF1 diagnostic criteria. The...
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