Abstract Library

#3978 SDHx germline mutation in thymic neuroendocrine tumors

Introduction: Mutation in succinate dehydrogenase complex genes (SDHA, SDHB, SDHC, SDHD) could be found in 10% of hereditary paraganglioma-pheochromocytomas and gastrointestinal stromal tumors. Nearly 25% of thymic neuroendocrine tumors (TNETs) are asscociated with MEN1. TNETs asscociated with SDHx germline mutation have not been reported.

Conference:

Presenting Author: Liang Y

Authors: Liang Y, Chen J,

Keywords: SDHx，thymic neuroendocrine tumor,

#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,

Keywords: PCC, PGL, mTOR, SDHx,

#658 Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing.

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,

#366 Next Generation Sequencing is a Cost Effective and Time Saving Method in Clinical Genetic Screening of Patients with Pheochromocytomas

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,

#273 The Succinate Dehydrogenase Genetic Testing in Patients with Extra-adrenal Paragangliomas: The Portuguese Cancer Center (Lisboa) Experience

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,