Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations

Patrick J Pollard, Mona El-Bahrawy, Richard Poulsom, George Elia, Pip Killick, Gavin Kelly, Toby Hunt, Rosemary Jeffery, Pooja Seedhar, Julian Barwell, Farida Latif, Michael J Gleeson, Shirley V Hodgson, Gordon W Stamp, Ian P M Tomlinson, Eamonn R Maher

Research output: Contribution to journalArticlepeer-review

Abstract

Activation of the hypoxia-inducible transcription factors HIF-1 and HIF-2 and a HIF-independent defect in developmental apoptosis have been implicated in the pathogenesis of pheochromocytoma (PCC) associated with VHL, SDHB, and SDHD mutations.
Original languageEnglish
Pages (from-to)4593-8
Number of pages6
JournalJournal of Clinical Endocrinology & Metabolism
Volume91
Issue number11
DOIs
Publication statusPublished - Nov 2006

Keywords

  • Adrenal Gland Neoplasms
  • Adrenal Medulla
  • Basic Helix-Loop-Helix Transcription Factors
  • Gene Expression Regulation, Neoplastic
  • Germ-Line Mutation
  • Head and Neck Neoplasms
  • Humans
  • Hypoxia-Inducible Factor 1, alpha Subunit
  • Immunohistochemistry
  • Paraganglioma
  • Pheochromocytoma
  • Succinate Dehydrogenase
  • Transcription Factors
  • Von Hippel-Lindau Tumor Suppressor Protein

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