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.
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