Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

ABSTRACT:

Background

Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibromatosis type 1 (NF1), a common autosomal dominant disorder affecting 1 in 3500 individuals. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. NF1 is a fully penetrant gene exhibiting a mutation rate some 10-fold higher compared with most other disease genes. As a consequence, a high number of cases (up to 50%) are sporadic. Mutation detection is complex due to the large size of the NF1 gene, the presence of pseudogenes and the great variety of lesions.

Methods

110 patients with at least two neurofibroma lesions recorded in the files of the Pathology Department of the University of Modena during the period 1999-2010, were

SUBMITTER: Ponti G 

PROVIDER: S-EPMC3199899 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature