Pheochromocytoma: A Genetic and Diagnostic Update

Leilani B. Mercado-Asis, MD, PhD, MPH; Katherine I. Wolf; Ivana Jochmanova, MD; David Taïeb, MD


Endocr Pract. 2018;24(1):78-90. 

In This Article


We present the most recent advances in genetics, epigenetics, metabolomics, biochemical, and imaging diagnoses of this rare tumor to properly assess disease, identify treatment options, and manage follow-up. At initial presentation, a complete history and physical examination should be performed, with particular attention paid to possible syndromic features. Urinary and/or plasma catecholamine biochemistry should follow, along with 3-methoxytyramine where available. Blood samples should be drawn with the patient lying supine for at least 20 minutes prior to extraction. Following elevated biochemistry, the next step is anatomical imaging with CT or MRI. Upon lesion confirmation, functional imaging may be appropriate. 68Ga-DOTATATE PET/CT and 18F-FDG PET/CT are the first nuclear scans that should be utilized when meta-static disease is suspected, particularly in SDHB-related cases and HNPGLs. Surgical removal of localized lesions remains the best treatment option for patients with PPGL. When a curative operation is not feasible, targeted molecular therapy or radiotherapy with 131I-MIBG or PRRT should be evaluated. The most effective treatment and follow-up plans are developed with a collaborative, multidisciplinary approach to ensure the patient is adequately assessed from the endocrine, cardiology, oncology, and surgical points of view.