Cerebellar astrocytoma associated with von Hippel-Lindau disease: case report with molecular findings

We describe the rare occurrence of a cerebellar astrocytoma developing in a patient with the von Hippel-Lindau disease. This tumour possessed well-differentiated fibrillated astrocytes and moderate vascular proliferation. Tumour 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 loci at 17q11, a site of common loss in pilocytic astrocytoma, however, were retained in this tumour. This case illustrates that astrocytomas are rarely found in the von Hippel-Lindau disease and they may contain genetic changes common to both haemangioblastomas and some astrocytomas.