Von hippel-lindau disease and erythrocytosis

Luciana Teofili, Maurizio Martini, Luigi Maria Larocca, Sara Capodimonti, Tonia Cenci, Maria Bianchi, Marina Murdolo, Giuseppe Leone, Mg Iachininoto, Er Nuzzolo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

16 Citazioni (Scopus)

Abstract

The increased transcription of HIF target genes plays a key role in the promotion of the angiogenic phenotype that is a characteristic of VHL disease–related tumors. The deregulated oxygen sensing pathway is responsible for the clinical picture that is characteristic of congenital polycythemia as a result of the homozygous VHLR200W mutation, which is characterized by erythrocytosis, pulmonary hypertension, and vertebral hemangiomas. We describe for the first time the contemporary presence in a single patient of these two different clinical phenotypes engendered by germline VHL mutations.
Lingua originaleEnglish
pagine (da-a)e137-e137-9
RivistaJournal of Clinical Oncology
Volume30
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Adrenal Gland Neoplasms
  • Adult
  • Aspirin
  • Biological Markers
  • Biopsy
  • DNA Mutational Analysis
  • Erythropoietin
  • Genetic Predisposition to Disease
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Pheochromocytoma
  • Phlebotomy
  • Polycythemia
  • Treatment Outcome
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease

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