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

D. H. Gutmann, J. Donahoe, T. Brown, C. D. James, A. Perry

Research output: Contribution to journalArticlepeer-review

124 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)361-367
Number of pages7
JournalNeuropathology and Applied Neurobiology
Volume26
Issue number4
DOIs
StatePublished - 2000

Keywords

  • Glioma
  • Neurofibromatosis
  • Neurofibromin
  • Pilocytic astrocytoma
  • Ras

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