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Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas.

Authors: Gutmann, D H  Donahoe, J  Brown, T  James, C D  Perry, A 
Citation: Gutmann DH, etal., Neuropathol Appl Neurobiol. 2000 Aug;26(4):361-7.
Pubmed: (View Article at PubMed) PMID:10931370

The critical role of the neurofibromatosis 1 (NF1) gene as a tumour suppressor has been clearly demonstrated for malignancies arising in NF1 patients. However, little is known about the more common benign tumours, such as the pilocytic astrocytoma. Most NF1-associated astrocytomas are benign and clinically non-progressive, though aggressive tumours are occasionally encountered. In this study, eight pilocytic astrocytomas from six individuals affected with NF1 were analysed for NF1 expression. All eight tumours demonstrated loss of neurofibromin expression by immunohistochemistry, which was confirmed in one case using Western blot analysis. Microsatellite analysis showed loss of a single NF1 allele (LOH) in two of four NF1-associated tumours. These results demonstrate that, in contrast to sporadic astrocytomas, loss of NF1 expression is an important primary genetic event in the pathogenesis of NF1-associated pilocytic astrocytomas.

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CRRD Object Information
CRRD ID: 12743656
Created: 2017-02-14
Species: All species
Last Modified: 2017-02-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.