Abstract
The nature of the cell responsible for von Hippel-Lindau (VHL) disease-associated tumor formation has been controversial for decades. We demonstrate that VHL disease-associated central nervous system tumors are composed of developmentally arrested angioblasts that coexpress erythropoietin (Epo) and Epo receptor. The angioblasts are capable of differentiating into RBCs via formation of blood islands with extramedullary hematopoiesis. Because of VHL deficiency, Epo receptor-expressing, developmentally arrested angioblasts simultaneously coexpress Epo, which may represent a crucial pathogenetic step in tumor formation.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Cerebellar Neoplasms / etiology*
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Cerebellar Neoplasms / metabolism
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Cerebellar Neoplasms / pathology*
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Erythropoietin / biosynthesis
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Erythropoietin / metabolism
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Hemangioblastoma / etiology*
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Hemangioblastoma / metabolism
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Hemangioblastoma / pathology*
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Hematopoiesis, Extramedullary
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Humans
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Immunohistochemistry
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Receptors, Erythropoietin / biosynthesis
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Receptors, Erythropoietin / metabolism
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von Hippel-Lindau Disease / complications*
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von Hippel-Lindau Disease / genetics
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von Hippel-Lindau Disease / pathology*
Substances
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Receptors, Erythropoietin
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Erythropoietin