Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1
2000; Oxford University Press; Volume: 9; Issue: 7 Linguagem: Inglês
10.1093/hmg/9.7.1059
ISSN1460-2083
Autores Tópico(s)Soft tissue tumor case studies
ResumoNeurofibromatosis 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.
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