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Human Molecular Genetics, 2000, Vol. 9, No. 7 1059-1066
© 2000 Oxford University Press

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

J. Lynn Rutkowski+, Kunsheng Wu, David H. Gutmann1, Philip J. Boyer2 and Eric Legius3

Departments of Neurology and Pediatrics, University of Pennsylvania, Philadelphia, PA, USA, 1Department of Neurology, Washington University School of Medicine, St Louis, MO, USA, 2Department of Pathology, University of Michigan, Ann Arbor, MI, USA and 3Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium

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 fibro­blasts 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.

+ To whom correspondence should be addressed at: Neurology Research, 502C Abramson Center, 3400 Civic Center Blvd, Philadelphia, PA 19104-4318, USA. Tel: +1 215 590 2406; Fax: +1 215 590 3779; Email: jlr@mail.med.upenn.edu


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