GARDIE , Betty

BACKGROUND: Congenital secondary erythrocytoses are due to deregulation of hypoxia inducible factor resulting in overproduction of erythropoietin. The most common germline mutation identified in the hypoxia signaling pathway is the Arginine 200-Tryptophan mutant of the von Hippel-Lindau tumor suppressor gene, resulting in Chuvash polycythemia....

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The classic model of tumor suppression implies that malignant transformation requires full "two-hit"inactivation of a tumor-suppressor gene. However, more recent work in mice has led to the proposal of a"continuum" model that involves more fluid concepts such as gene dosage-sensitivity and tissue specificity.Mutations in the tumor-suppressor...

Rationale: Renal cell carcinoma (RCC) accounts for about 2% of all adult cancers, and clear cell RCC (ccRCC) is the most common RCC histologic subtype. A hallmark of ccRCC is the loss of the primary cilium, a cellular antenna that senses a wide variety of signals. Loss of this key organelle in ccRCC is associated with the loss of the von...

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