Abstract Library

#4468 Prevalence of familial pheochromocytoma and paraganglioma syndromes – A large multicentre study

Introduction: Pheochromocytoma and paraganglioma (PPGLs) are rare tumours. Depending on the studied population, approximately 30% of PPGLs are caused by a germline pathogenic variant (PV).

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Reznick-Levi G, Khalaileh A, Svirsky-Frayden R, Reish O,

Keywords: paraganglioma, pheochromocytoma, genetic evaluation, catecholamine, sdhb, vhl,

#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,

#3150 A case report of familial paraganglioma syndrome type 4 caused by the SDHB mutation gene

Introduction: Paraganglioma type 4 syndrome is associated with SDHB mutation with a higher risk of malignancy.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Ciobanu O, Lambrescu I, Leca B, Nistor I, Martin S,

Keywords: paraganglioma, sdhb mutation,

#274 An Unexpected Diagnosis

Introduction: Paragangliomas (PGL) are defined as rare tumors arising from extra-adrenal sympathetic and parasympathetic paraganglia and malignant paragangliomas are defined by the presence of metastases.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Rebellato A, Zanchetta E, Calcagno A, De Carlo E, Maffei P,

Keywords: paraganglioma syndrome, pancreas,