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.

Capodimonti, S., Teofili, L., Martini, M., Cenci, T., Iachininoto, M., Nuzzolo, E., Bianchi, M., Murdolo, M., Leone, G., Larocca, L. M., Von hippel-lindau disease and erythrocytosis, <<JOURNAL OF CLINICAL ONCOLOGY>>, 2012; 30 (13): e137-e137-9. [doi:10.1200/JCO.2011.38.6797] [http://hdl.handle.net/10807/23703]

Von hippel-lindau disease and erythrocytosis

Capodimonti, Sara;Teofili, Luciana;Martini, Maurizio;Cenci, Tonia;Bianchi, Maria;Murdolo, Marina;Leone, Giuseppe;Larocca, Luigi Maria
2012

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.
2012
Inglese
Capodimonti, S., Teofili, L., Martini, M., Cenci, T., Iachininoto, M., Nuzzolo, E., Bianchi, M., Murdolo, M., Leone, G., Larocca, L. M., Von hippel-lindau disease and erythrocytosis, <<JOURNAL OF CLINICAL ONCOLOGY>>, 2012; 30 (13): e137-e137-9. [doi:10.1200/JCO.2011.38.6797] [http://hdl.handle.net/10807/23703]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/23703
Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 17
  • ???jsp.display-item.citation.isi??? 17
social impact