Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes

Christie G Turin; Molly M Crenshaw; Lauren Fishbein

doi:10.1530/EO-22-0044

Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes

Endocr Oncol. 2022 Jun 28;2(1):R65-R77. doi: 10.1530/EO-22-0044. eCollection 2022 Jan.

Authors

Christie G Turin¹, Molly M Crenshaw², Lauren Fishbein^{1

3}

Affiliations

¹ Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, University of Colorado, Aurora, Colorado, USA.
² Department of Pediatrics, Combined Pediatrics-Medical Genetics Residency Program, University of Colorado, Aurora, Colorado, USA.
³ Division of Biomedical Informatics and Personalized Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA.

Abstract

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia, respectively. Approximately 15-25% of PCC/PGL can become metastatic. Up to 30-40% of patients with PCC/PGL have a germline pathogenic variant in a known susceptibility gene for PCC/PGL; therefore, all patients with PCC/PGL should undergo clinical genetic testing. Most of the susceptibility genes are associated with variable penetrance for PCC/PGL and are associated with different syndromes, which include susceptibility for other tumors and conditions. The objective of this review is to provide an overview of the germline susceptibility genes for PCC/PGL, the associated clinical syndromes, and recommended surveillance.

Keywords: hereditary genetics; hereditary syndromes; paraganglioma; pheochromocytoma.

Publication types

Review

Grants and funding

R01 CA246586/CA/NCI NIH HHS/United States