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.
Ng
H K
HK
Department of Anatomical and Cellular Pathology, Chinese University of Hong Kong. hkng@cuhk.edu.hk
Tse
J Y
JY
Poon
W S
WS
D000328:Adult; D001254:Astrocytoma / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001932:Brain Neoplasms / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000473:pathology