Abstract Library

#1229 Preliminary Results on the Diagnosis of NETs in Portugal – The Cross Sectional TNE-ETC Survey

Introduction: NETs are increasing worldwide. Epidemiological data is lacking in Portugal. The NETs Study Group of the Portuguese Endocrine Society is committed to develop a National Registry.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Santos A

Authors: Santos A, Bugalho M, Lopes J, Claro I, Sanches A,

Keywords: Portugal NET,

#362 Succinate Dehydrogenase (SDH) Complex Expression in Pancreatic Endocrine Tumours (PETs)

Introduction: Absence of SDH subunit D (SDHD) mutations were reported by Perren et al (Oncogene 2002) but loss of heterozigosity (LOH) was described in 29% of the PETs. Since SDHD gene may depict a form of genomic imprinting in neuroendocrine (NE) tissue, the reported LOH may drive activation of the hypoxia pathway. Taking advantage from the immunohistochemical (IHC) method for genetic triage we may deduce the mutational status of SDH subunits (A, B, C and D) based on IHC SDHB expression. These subunits are striking candidates as they are mutated in other NE neoplasias.

Conference:

Presenting Author:

Authors: Vinagre J, Preto J, Soares P, Lopes J,

Keywords: PETs SDH LOH,

#271 A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype

Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Domingues R, Vilar H, Lopes L, Jácome de Castro J, Martins Bugalho M,

Keywords: pheochromocytoma, familial forms, germline mutations, susceptibility genes, TMEM127,