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

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 i...

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Bibliographic Details
Published in:Human molecular genetics 2000-04, Vol.9 (7), p.1059-1066
Main Authors: RUTKOWSKI, J. L, KUNSHENG WU, GUTMANN, D. H, BOYER, P. J, LEGIUS, E
Format: Article
Language:English
Subjects:
Adult
Alleles
Biological and medical sciences
Blotting, Northern
Blotting, Western
Child, Preschool
Female
Fibroblasts - metabolism
Genes, Neurofibromatosis 1 - genetics
Humans
In Situ Hybridization, Fluorescence
Male
Medical sciences
Middle Aged
Mutation
Neural Crest - metabolism
Neurofibroma - genetics
Neurofibromatosis 1 - genetics
Neurofibromatosis 1 - metabolism
Neurofibromin 1
Neurology
NF1 gene
Phenotype
Proteins - metabolism
S100 Proteins - metabolism
Schwann Cells - metabolism
Tubulin - metabolism
Tumors of the nervous system. Phacomatoses
X Chromosome - genetics
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Summary: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.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/9.7.1059