Abstract Library

#4224 Uncommon manifestations in type 4 familial paraganglioma syndrome – A large cohort of patients harbouring the SDHB p.Q214Ter variant

Introduction: Familial paraganglioma type 4 syndrome (PPGL4) is caused by a germline pathogenic variant (PV) in the SDHB gene. Patients harbouring germline SDHB PV have a higher risk of developing paragangliomas and pheochromocytomas. PPGL4 is considered a higher-risk syndrome for aggressive, and metastatic, abdominal-thoracic paragangliomas compared with other familial paraganglioma syndromes.

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Jabarin A, Tirosh A,

Keywords: paraganglioma, pheochromocytoma, sdhb, hereditary,

#3767 Metabolic alterations in patients with pheochromocytoma/paragangliomas and SDHB mutations

Introduction: Pheochromocytoma/paragangliomas (PPGL) patients with SDHB mutation may have unfavourable course of disease. SDHB gene inactivation results in up-regulation of glycolytic reaction and activation of pseudo-hypoxic phenotype in preclinical studies.

Conference:

Presenting Author: Benevento E

Authors: Benevento E, Cannavale G, Liccardi A, Minotta R, Modica R,

Keywords: pheochromocytoma, paraganglioma, SDHB,

#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,