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,

#1784 Peptide Receptor Radionuclide Therapy (PRRT) for Treatment of Functional and Metastatic Phaeochromocytoma (PCC) and Paraganglioma (PGL)

Introduction: Treatment options for metastatic PCC/PGL and related hypertension (HTN) are limited. Experiences in PRRT suggest favourable disease control, but lack of data on HTN response.

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author: kong G

Authors: Kong G, Grozinsky-Glasberg S, Callahan J, Hofman M, Meirovitz A,

Keywords: PRRT,

#1380 Assessment of the Growth Rate of Paragangliomas Related to SDHx Gene Mutations Using Computed Tomography.

Introduction: SDHx mutations are associated with a lifelong risk of multifocal paragangliomas (PGL), so patients need regular follow-up examinations.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Ćwikła J

Authors: Michałowska I, Peczkowska M, Cwikła J, Michalski W, Wyrwicz L,

Keywords: SDHx mutation, paraganglioma ,

#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,