Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient

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.