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

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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).

Aim(s): Study the prevalence and characteristics of hereditary PPGLs in a large multicentre cohort.

Materials and methods: We included patients with a personal or family history of PPGL who underwent germline DNA sequencing (whole exome or panel sequencing). Demographic, clinical, biochemical, and genetic data were gathered.

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,