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

#4224

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.

Aim(s): Describe the largest cohort of patients with the pathogenic SDHB c.640C>T p.Q214Ter variant.

Materials and methods: The patients underwent germline DNA isolation and sequencing. Patients harbouring the PV underwent clinical evaluation, and blood pressure measurements and were referred for catecholamine quantification and neck, chest, abdomen, and pelvic imaging.

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Jabarin A, Tirosh A,

Keywords: paraganglioma, pheochromocytoma, sdhb, hereditary,