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Hum Mol Genet. 2000 Apr 12;9(7):1059-66.

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

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  • 1Departments of Neurology and Pediatrics, University of Pennsylvania, Philadelphia, PA 19104-4318, USA, jlr@mail.med.upenn.edu

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.

PMID:
10767330
[PubMed - indexed for MEDLINE]
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