Abstract Library

#4162 Functioning neuroendocrine neoplasms: Symptomatic control with 177Lu-DOTATATE

Introduction: Peptide Receptor Radionuclide Therapy (PRRT) with 177Lu-DOTATATE is recommended in unresectable and metastatic gastroenteropancreatic neuroendocrine neoplasms (NENs), however, recommendations for functioning NENs (F-NENs) are not well established. Besides PRRT impact in OS and PFS, real-life benefit in clinical control is also a relevant outcome, especially in F-NENs.

Conference:

Presenting Author: Santos A

Authors: Lopes-Pinto M, Silva D, Ribeiro S, Oliveira J, Ferreira G,

Keywords: neuroendocrine neoplasm, functioning neuroendocrine neoplasm, carcinoid syndrome, PRRT,

#3241 Clinical features and management of paragangliomas in a tertiary university hospital

Introduction: Paragangliomas (PG) are rare neuroendocrine tumors that arise from the extra-adrenal paraganglia. The most frequent location is head and neck PG (HNPG), usually non-functioning tumors. PG present a high rate of genetic susceptibility mainly associated with SDHx mutation. Clinical presentation depends upon catecholamine secretion and tumor location. Surgery remains the standard treatment, although radiotherapy and systemic therapies can be considered for unresectable or metastatic disease.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Damaso S, Lopes Brás R, Paiva R, Macedo D, Fernandes I,

Keywords: paraganglioma, treatment, sdhb gene,

#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,