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Pheochromocytomas and Paragangliomas: Genetics and Pathophysiology

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Adrenal Disorders

Part of the book series: Contemporary Endocrinology ((COE))

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Abstract

Pheochromocytomas and paragangliomas are rare tumors of the autonomic nervous system. These tumors are associated with high morbidity and mortality from hormonal hypersecretion, mass effect, and metastatic disease. Metastatic pheochromocytomas and paragangliomas are associated with a 50% 5-year survival rate, and currently, there is no cure for widespread disease. Up to 40% of pheochromocytomas and paragangliomas are associated with a hereditary mutation in one of the many susceptibility genes involved in a variety of cancer syndromes. Between the germline and somatic genetic mutations identified to date, at least 60% of tumors have a known driver of tumorigenesis. Despite the extensive knowledge of the tumor genetics, very little is known about the pathogenesis of malignant transformation.

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Acknowledgements

LF is supported by the American Cancer Society Mentored Research Scholar Grant MRSG-15-063-01-TBG.

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  1. Division of Endocrinology, Metabolism and Diabetes, Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine, 12801 E. 17th Ave, MS 8106, Aurora, CO, 80045, USA

    Lauren Fishbein M.D., Ph.D.

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Correspondence to Lauren Fishbein M.D., Ph.D. .

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  1. Div of Endocrinology and Bone Diseases, Icahn School of Medicine at Mount Sinai, New York, New York, USA

    Alice C. Levine

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Fishbein, L. (2018). Pheochromocytomas and Paragangliomas: Genetics and Pathophysiology. In: Levine, A. (eds) Adrenal Disorders. Contemporary Endocrinology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-62470-9_8

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