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.


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


  • Catecholamines