Hk. Ng et al., Cerebellar astrocytoma associated with von Hippel-Lindau disease: case report with molecular findings, BR J NEUROS, 13(5), 1999, pp. 504-507
We describe the rare occurrence of a cerebellar astrocytoma developing in a
patient with the von Hippel-Lindau disease. This tumour possessed well-dif
ferentiated fibrillated astrocytes and moderate vascular proliferation. Tum
our cells were uniformly GFAP positive and negative for lipids. This tumour
showed an A to C mutation at nucleotide 675 at the splicing donor site of
exon 2 of the VHL gene and a concurrent loss of heterozygosity of the 3p25
locus, a site of allelic deletions reported in some astrocytomas. Allelic l
oci at 17q11, a site of common loss in pilocytic astrocytoma, however, were
retained in this tumour. This case illustrates that astrocytomas are rarel
y found in the von Hippel-Lindau disease and they may contain genetic chang
es common to both haemangioblastomas and some astrocytomas.