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#1131 M-TORC1 Complex Is Significantly Over-Activated in SDHx-Mutated Paragangliomas
Introduction: The activation patterns of mTOR pathway in sporadic and hereditary pheochromocytomas (PCC) and paragangliomas (PGL) are poorly recognized.
Conference: 12th Annual ENETSConcerence (2015)
Presenting Author: Volante M
Authors: Oudijk L, Papathomas T, De Krijger R, Gimenez-Roqueplo A, Mannelli M,
Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.
Conference: 10th Annual ENETSConcerence (2013)
Presenting Author:
Authors: Crona J, Delgado Verdugo A, Stålberg P, Granberg D, Hellman P,
Keywords: H-RAS, pheochromocytoma,
Introduction: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30-40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAD. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing Next generation sequencing as a fast and cost effective method.
Conference:
Presenting Author:
Authors: Crona* J, Delgado Verdugo* A, Hellman P, Björklund P,
Keywords: next generation sequencing, pheochromocytoma,
Introduction: Extra-adrenal paragangliomas (PGLs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC or SDHD genes.
Conference: 8th Annual ENETSConcerence (2011)
Presenting Author:
Authors: Domingues R, Santos R, Montalvão P, Magalhães M, Martins Bugalho M,
Keywords: paraganglioma, germline mutations, SDHB, SDHC, SDHD,
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,