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#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,