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

Dhaval Patel; John E Phay; Tina W F Yen; Paxton V Dickson; Tracy S Wang; Roberto Garcia; Anthony D Yang; Carmen C Solórzano; Lawrence T Kim

doi:10.1245/s10434-020-08220-3

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

Ann Surg Oncol. 2020 May;27(5):1329-1337. doi: 10.1245/s10434-020-08220-3. Epub 2020 Feb 28.

Authors

Dhaval Patel¹, John E Phay², Tina W F Yen³, Paxton V Dickson⁴, Tracy S Wang³, Roberto Garcia⁵, Anthony D Yang⁶, Carmen C Solórzano⁷, Lawrence T Kim⁸

Affiliations

¹ Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA. divot999@gmail.com.
² Department of Surgery, The Ohio State University, Columbus, OH, USA.
³ Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
⁴ Division of Surgical Oncology, Department of Surgery, University of Tennessee Health Science Center, Memphis, TN, USA.
⁵ Division of Surgical Oncology, National Cancer Institute of Panama/Paitilla Medical Center, Panama City, Panama.
⁶ Division of Surgical Oncology, Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
⁷ Division of Surgical Oncology and Endocrine Surgery, Vanderbilt University, Nashville, TN, USA.
⁸ Division of Surgical Oncology and Endocrine Surgery, University of North Carolina, Chapel Hill, NC, USA.

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.

Publication types

Review

MeSH terms

Abdomen
Adrenal Gland Neoplasms / diagnosis*
Adrenal Gland Neoplasms / epidemiology
Adrenal Gland Neoplasms / genetics
Adrenal Gland Neoplasms / physiopathology
Arrhythmias, Cardiac / physiopathology
Catecholamines / blood
Catecholamines / urine
Chromaffin Cells / metabolism
Ganglia, Parasympathetic
Ganglia, Sympathetic
Genetic Testing
Headache / physiopathology
Humans
Hypertension / physiopathology
Multiple Endocrine Neoplasia Type 2a / diagnosis
Multiple Endocrine Neoplasia Type 2a / genetics
Multiple Endocrine Neoplasia Type 2b / diagnosis
Multiple Endocrine Neoplasia Type 2b / genetics
Neoplastic Syndromes, Hereditary / diagnosis
Neoplastic Syndromes, Hereditary / genetics
Neurofibromatosis 1 / diagnosis
Neurofibromatosis 1 / genetics
Paraganglioma / diagnosis
Paraganglioma / epidemiology
Paraganglioma / genetics
Paraganglioma / physiopathology
Paraganglioma, Extra-Adrenal / diagnosis*
Paraganglioma, Extra-Adrenal / epidemiology
Paraganglioma, Extra-Adrenal / genetics
Paraganglioma, Extra-Adrenal / metabolism
Pelvis
Pheochromocytoma / diagnosis*
Pheochromocytoma / epidemiology
Pheochromocytoma / genetics
Pheochromocytoma / physiopathology
Sweating / physiology
von Hippel-Lindau Disease / diagnosis
von Hippel-Lindau Disease / genetics

Substances

Catecholamines

Grants and funding

K08 HL145139/HL/NHLBI NIH HHS/United States