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

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.

authors

Gutmann DH,Donahoe J,Brown T,James CD,Perry A

doi

10.1046/j.1365-2990.2000.00258.x

keywords:

subject

Has Abstract

pub_date

2000-08-01 00:00:00

pages

361-7

issue

4

eissn

0305-1846

issn

1365-2990

pii

nan258

journal_volume

26

pub_type

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