title: Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient.
abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition seen in all ethnic groups affecting approximately one in 4000 individuals. The disease is caused by mutations in the NF1 gene, one of the largest human genes. In this report we present one case of massive soft tissue neurofibromas arising in a Sicilian patient with NF1. The sequence of NF1 gene in this patient revealed a cluster of variants distributed along the whole gene. Among these we identified two heterozygous frameshift mutations in exon 19 (c.2480delA) and a novel mutation in exon 21 (c.2632delC). Ten novel nonsynonymous missense variations were also identified in this patient.
authors.affiliation: Department of Dermatology, University of Palermo, Palermo, Italy. istderm@unipa.it
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Bongiorno
authors.forename: Angelo B
authors.initials: AB
authors.lastname: Cefalù
authors.forename: Mario
authors.initials: M
authors.lastname: Aricò
authors.forename: Maurizio
authors.initials: M
authors.lastname: Averna
mesh_terms: D001706:Biopsy; D002081:Buttocks / Q000473:pathology*; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D015972:Gene Expression Regulation, Neoplastic; D016514:Genes, Neurofibromatosis 1; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology*; D012802:Sicily; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology*