Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.

Abstract

Neurofibromatosis type 1 (NF1) is a common inherited cancer predisposition syndrome. The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors. These neurofibromas presumably arise from NF1 inactivation in S100(+)Schwann cells, but there is no formal proof for this mechanism. We demonstrate that fibro-blasts isolated from neurofibromas carried at least one normal NF1 allele and expressed both NF1 mRNA and protein, whereas the S100(+)cells typically lacked the NF1 transcript. Our findings further indicate that additional molecular events aside from NF1 inactivation in Schwann cells and/or other neural crest derivatives contribute to neurofibroma formation.

• Authors: J L Rutkowski, K Wu, D H Gutmann, P J Boyer, E Legius
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 9 Issue 7 Pg. 1059-66 (Apr 12 2000) ISSN: 0964-6906 [Print] England
• PMID: 10767330 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Neurofibromin 1
• Proteins
• S100 Proteins
• Tubulin

Topics

• Adult
• Alleles
• Blotting, Northern
• Blotting, Western
• Child, Preschool
• Female
• Fibroblasts (metabolism)
• Genes, Neurofibromatosis 1 (genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Male
• Middle Aged
• Mutation
• Neural Crest (metabolism)
• Neurofibroma (genetics)
• Neurofibromatosis 1 (genetics, metabolism)
• Neurofibromin 1
• Phenotype
• Proteins (metabolism)
• S100 Proteins (metabolism)
• Schwann Cells (metabolism)
• Tubulin (metabolism)
• X Chromosome (genetics)