von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease

Central nervous system hemangioblastoma is a neoplasm with characteristic and well-described histopathological features, including proliferation of vascular and stromal cells. Yet, the histogenesis of the stromal cell component and its neoplastic capacity as compared with the vascular component are...

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Bibliographic Details
Published in:Human pathology 1997-05, Vol.28 (5), p.540-543
Main Authors: Vortmeyer, A.O, Gnarra, J.R, Emmert-Buck, M.R, Katz, D, Linehan, W.M, Oldfield, E.H, Zhuang, Z
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cerebellar Neoplasms - complications
Cerebellar Neoplasms - genetics
Cerebellar Neoplasms - pathology
Complex syndromes
Gene Deletion
Genes, Tumor Suppressor - genetics
hemangioblastoma
Hemangioblastoma - complications
Hemangioblastoma - genetics
Hemangioblastoma - pathology
Heterozygote
Humans
Ligases
loss of heterozygosity
Medical genetics
Medical sciences
Proteins - genetics
tissue microdissection
Tumor Suppressor Proteins
Ubiquitin-Protein Ligases
VHL gene
von Hippel-Lindau Disease - complications
von Hippel-Lindau Disease - genetics
von Hippel-Lindau Disease - pathology
Von Hippel-Lindau Tumor Suppressor Protein
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Summary:Central nervous system hemangioblastoma is a neoplasm with characteristic and well-described histopathological features, including proliferation of vascular and stromal cells. Yet, the histogenesis of the stromal cell component and its neoplastic capacity as compared with the vascular component are still controversial. Stromal cells were selectively procured from formalin-fixed, paraffin-embedded archival tissue from a von Hippel-Lindau (VHL) disease patient with a cerebellar hemangioblastoma and studied for loss of heterozygosity (LOH) of the VHL gene locus and associated microsatellite regions. The stromal cells consistently showed LOH. Analysis of mixed stromal and vascular areas of this tumor and four other hemangioblastomas of VHL patients showed that loss of heterozygosity was partially obscured. These preliminary results suggest that the stromal component of hemangioblastomas contains genetic alterations consistent with a neoplastic nature. Additional samples of pure stromal cells need to be analyzed to establish the prevalence of VHL gene deletion in stromal cells of capillary hemangioblastoma and, hence, its pathogenetic significance.
ISSN:0046-8177
1532-8392
DOI:10.1016/S0046-8177(97)90075-7