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#99 Gene mutations and Hypoxia Inducible Factor (HIF-1) expression as prognostic-predictive factors in pheochromocytomas/paragangliomas (P/P)

Introduction: P/P are rare tumors sporadically associated with familial disorders. In advanced/unresectable disease, no standard treatment has so far been well established. Recently a mutation of some genes (SDHB, SDHC, SDHD) involved in the pathogenesis of familial P/P was discovered. These mutations are often associated with an over-expression of HIF-1, which plays a central role in angiogenesis and cell proliferation. This pathway is known to be inhibited by some targeted therapies, such as sunitinib or sorafenib.

Conference: 7th Annual ENETSConcerence (2010)

Presenting Author:

Authors: Procopio G, Milione M, Pusceddu S, Valente M, Avarino C,

Keywords: pheochromocytomas, paragangliomas, SDHB mutation, HIF-1, targeted therapies,