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Update on pediatric pheochromocytoma

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Abstract

Pheochromocytomas are rare tumors in children arising from chromaffin cells of adrenal medullary or extra-adrenal paraganglionic tissue. The tumors are characterized by synthesis, metabolism, and secretion of catecholamines. The formerly used guidelines for pheochromocytoma have been changed by recent discoveries, implementation of new approaches, and understanding of biochemistry, genetics, imaging, pathophysiology, and nomenclature of these tumors. In children, pheochromocytomas are more frequently familial, extra-adrenal, bilateral, and multifocal than in adults. Because of a highly variable clinical presentation, pheochromocytoma is often referred to as the great mimic. Measurements of plasma or urinary fractionated metanephrines are recommended as first-line biochemical tests for diagnosis, with optimum diagnostic sensitivity to be preferred over specificity. In general, localization studies must be used secondary to clinical and biochemical evidence. Adequate preoperative treatment with α-blockade is mandatory, including for pheochromocytomas that do not secrete but only synthesize catecholamines. Because approximately 40% of pheochromocytomas in children have a hereditary basis, proper genetic testing should be performed, with appropriate implications for future follow-up and treatment options. The risk for development of malignant disease depends highly on the underlying mutation, which may also impact recommendations concerning screening and surgical or systemic treatment. This article reviews recent advances in biochemistry, genetics, and imaging and outlines recommendations for improved evaluation and treatment of children with benign or malignant pheochromocytomas.

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Acknowledgements

This research was supported in part by the Intramural Research Program of the NIH/NICHD.

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Authors and Affiliations

  1. Reproductive Biology and Medicine Branch, Section on Medical Neuroendocrinology, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, CRC, 1-East, Room 1-3140, 10 Center Drive, MSC-1109, Bethesda, MD, 20892-1109, USA

    Bas Havekes, Karen Adams & Karel Pacak

  2. Department of Endocrinology and Metabolism, Leiden University Medical Center, Leiden, The Netherlands

    Bas Havekes & Johannes A. Romijn

  3. Departments of Medicine and Clinical Chemistry, University of Dresden, Dresden, Germany

    Graeme Eisenhofer

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  1. Bas Havekes
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  2. Johannes A. Romijn
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  5. Karel Pacak
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Correspondence to Karel Pacak.

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Havekes, B., Romijn, J.A., Eisenhofer, G. et al. Update on pediatric pheochromocytoma. Pediatr Nephrol 24, 943–950 (2009). https://doi.org/10.1007/s00467-008-0888-9

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