Pheochromocytoma and Paraganglioma: Genetics, Diagnosis, and Treatment

Lauren Fishbein

doi:10.1016/j.hoc.2015.09.006

Pheochromocytoma and Paraganglioma: Genetics, Diagnosis, and Treatment

Hematol Oncol Clin North Am. 2016 Feb;30(1):135-50. doi: 10.1016/j.hoc.2015.09.006. Epub 2015 Oct 23.

Author

Lauren Fishbein¹

Affiliation

¹ Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 351 BRB II/III, 421 Curie Boulevard, Philadelphia, PA 19104, USA. Electronic address: lauren.fishbein@ucdenver.edu.

PMID: 26614373
DOI: 10.1016/j.hoc.2015.09.006

Abstract

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare but unique neuroendocrine tumors. The hypersecretion of catecholamines from the tumors can be associated with high morbidity and mortality, even when tumors are benign. Up to 40% of PCCs/PGLs are associated with germline mutations in susceptibility genes. About one-quarter are malignant, defined by the presence of distant metastases. Treatment options for unresectable metastatic disease, including chemotherapy, (131)I-MIBG, and radiation, can offer limited tumor and hormone control, although none are curative. This article reviews the inherited genetics, diagnosis, and treatment of PCCs and PGLs.

Keywords: Genetics; Malignant; Metastatic; Paraganglioma; Pheochromocytoma; Treatment.

Publication types

Review

MeSH terms

Catecholamines / metabolism
Drug Therapy / methods
Genetic Predisposition to Disease / genetics*
Humans
Molecular Targeted Therapy
Mutation*
Paraganglioma / diagnosis
Paraganglioma / genetics*
Paraganglioma / therapy
Pheochromocytoma / diagnosis
Pheochromocytoma / genetics*
Pheochromocytoma / therapy
Radiotherapy / methods
Tumor Burden / drug effects
Tumor Burden / radiation effects

Substances

Catecholamines