Publication: Pathology, genetics and cell biology of hemangioblastomas
Authors
Wizigmann-Voos, S. ; Plate, K.H.
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
Hemangioblastomas are highly vascularized
tumors of not well-defined histological origin which
are frequently associated with cysts. They arise
preferentially in cerebellum, medulla and spinal cord and
are histologically indistinguishable from vascular lesions
in the retina (so-called angiomatosis retinae). Hemangioblastomas
are the most frequent manifestations of the
von Hippel-Lindau (VHL) disease, an autosomaldominant
inherited cancer syndrome but also occur as
sporadic non-hereditary tumors. The VHL tumor
suppressor gene has recently been cloned and enormous
progress has been made towards the understanding of
molecular biology and biological function of the VHL
gene. Germline mutations in VHL patients, as well as
somatic mutations in different tumors, including
hemangioblastomas, have been identified, its ability to
act as a tumor suppressor in vivo has been confirmed,
and interaction with transcription factors Elongin B and
C leading to inhibition of transcriptional elongation has
been demonstrated. The mechanism underlying neovascularization
and cyst formation in hemangioblastomas
and how this is linked to inactivation of the
VHL tumor suppressor gene is not known. However, the
finding of dramatic up-regulation of vascular endothelial
growth factor (VEGF), a potent endothelial cell growth
factor with vascular permeability-inducing activity, in
stromal cells and the corresponding receptors, VEGFR-1
and VEGFR-2, in tumor endothelial cells suggests that
angiogenesis and cyst formation in hemangioblastomas may be regulated by this signaling pathway via a
paracrine mechanism.
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