AACE MENA 2025-What's New in the Approach and Management of Pheochromocytoma/Paraganglioma

Video Transcription

Video Summary

This presentation focused on pheochromocytomas and paragangliomas, covering diagnosis, preoperative management, genetic associations, and treatment of malignant cases. Pheochromocytomas are rare adrenal tumors that secrete catecholamines, causing potentially severe hypertension and related symptoms. They are often discovered incidentally on imaging, with tumor size and functional testing guiding diagnosis. Functional evaluation includes measuring catecholamine metabolites and assessing cortisol and aldosterone secretion.<br /><br />Case studies illustrated complexity in diagnosis, including bilateral tumors with mixed features, the importance of genetic testing (e.g., VHL mutations linked to noradrenergic profiles), and distinguishing benign from malignant disease. Preparation for surgery involves alpha- and beta-adrenergic blockade to control hypertension and prevent perioperative complications.<br /><br />Malignant pheochromocytomas, defined by metastases beyond adrenal sites, occur in about one-third of patients and have highly variable progression and survival rates. Treatment of metastatic disease emphasizes individualized approaches, including localized therapies like cryoablation and radiation, with systemic options historically limited and often toxic.<br /><br />A novel therapy, the HIF2-alpha inhibitor Belzutifan, showed promise in a phase 2 trial by inducing partial tumor responses in 26% of patients with advanced paraganglioma, improving disease control (85%) and quality of life despite significant side effects. Overall, advances in genetic profiling, imaging, and targeted treatments are gradually refining management of this challenging tumor spectrum.

Keywords

pheochromocytoma

paraganglioma

catecholamines

genetic testing

malignant pheochromocytoma

HIF2-alpha inhibitor Belzutifan

preoperative management