RGD Reference Report - Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas. - Rat Genome Database

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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.
RGD ID: 12743656
Pubmed: PMID:10931370   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
malignant astrocytoma  IEP 12743656protein:decreased expression:brain:RGD 
malignant astrocytoma  ISONF1 (Homo sapiens)12743656; 12743656protein:decreased expression:brain:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nf1  (neurofibromin 1)

Genes (Mus musculus)
Nf1  (neurofibromin 1)

Genes (Homo sapiens)
NF1  (neurofibromin 1)


Additional Information