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Curr Cardiol Rep. 2019 Jul 31;21(9):104. doi: 10.1007/s11886-019-1184-y.

Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?

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Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, Division of Biomedical Informatics and Personalized Medicine, University of Colorado School of Medicine, 12801 E. 17th Ave, MS 8106, Aurora, CO, 80045, USA.


Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading to cardiovascular morbidity and even mortality. These unique tumors have the highest heritability of all solid tumor types with up to 35-40% of patients with PCC/PGL having a germline predisposition. PURPOSE OF REVIEW: To review the germline susceptibility genes and clinical syndromes associated with PCC/PGL. RECENT FINDINGS: There are over 12 PCC/PGL susceptibility genes identified in a wide range of pathways. Each gene is associated with a clinical syndrome with varying penetrance for both primary and metastatic PCC/PGL and often includes increased risk for additional tumors besides PCC/PGL. Patients with sporadic or hereditary PCC/PGL should be monitored for life given the risk of multiple primary tumors, recurrence, and metastatic disease. All patients with PCC/PGL should be referred for consideration for clinical genetic testing given the high heritability of disease.


Genetics; Hereditary; Metastatic pheochromocytoma; Paraganglioma; Pheochromocytoma

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