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Article

Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma

15 May 2002

Abstract excerpt

The von Hippel-Lindau (VHL) tumor suppressor gene targets hypoxia-inducible transcription factors (HIFs) for proteasomal degradation. Erythrocytosis due to inappropriate production of erythropoietin (EPO), one of the HIF target genes, is a classic albeit rare finding in patients with renal cancer. We report the clinical to molecular analysis in a patient in whom a thrombotic myocardial infarction was the first...

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Identifiers

PMID: 11986208
DOI: 10.1182/blood.v99.10.3562

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Related research

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Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinomaPMID 11986208Read ↗

Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cells.Semantic proximity Read ↗

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Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignanciesSemantic proximity Read ↗

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