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An update on the genetics of pheochromocytoma

Journal of Human Hypertension volume 27, pages 141–147 (2013)Cite this article

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Abstract

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30% or more of them are thought to be of inherited origin due to germ-line mutations in at least 10 well-characterized genes. There are data linking specific genotypes of these tumors to specific locations, typical biochemical phenotypes or future clinical behaviors. Conversely, clinical features, catecholamine production and immunohistochemistry evaluation can help with the proper order of genetic testing for PHEO and PGL. The identification of a germ-line mutation can lead to an early diagnosis, appropriate treatment, regular surveillance and better prognosis not only for the patient but also for their family members. Moreover, the latest discoveries in molecular pathogenesis of these tumors will provide an important basis for future personalized therapy.

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Acknowledgements

This work was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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Authors and Affiliations

  1. Third Department of Internal Medicine, University Hospital Olomouc, Olomouc, Czech Republic

    D Karasek & Z Frysak

  2. Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

    U Shah & K Pacak

  3. Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

    C Stratakis

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Correspondence to K Pacak.

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Karasek, D., Shah, U., Frysak, Z. et al. An update on the genetics of pheochromocytoma. J Hum Hypertens 27, 141–147 (2013). https://doi.org/10.1038/jhh.2012.20

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