Update on Pheochromocytoma and Paraganglioma from the SSO Endocrine/Head and Neck Disease-Site Work Group. Part 1 of 2: Advances in Pathogenesis and Diagnosis of Pheochromocytoma and Paraganglioma

Abstract

This first part of a two-part review of pheochromocytoma and paragangliomas (PPGLs) addresses clinical presentation, diagnosis, management, treatment, and outcomes. In this first part, the epidemiology, prevalence, genetic etiology, clinical presentation, and biochemical and radiologic workup are discussed. In particular, recent advances in the genetics underlying PPGLs and the recommendation for genetic testing of all patients with PPGL are emphasized. Finally, the newer imaging methods for evaluating of PPGLs are discussed and highlighted.

FIG. 1

Chromaffin cells synthesize norepinephrine and epinephrine from phenylalanine, a tyrosine precursor. AAAD, L-aromatic amino acid decarboxylase; DBH, dopamine β-hydroxlase; L-DOPA, dihydroxyphenylalanine; PNMT, phenylethanolamine N-methyltransferase

FIG. 2

A patient with a 3.34-cm right paraganglioma shown by a computed tomography (CT) axial slice and b CT coronal slice. The patient underwent a c 68-gallium dotatate scan, which showed high avidity