Pheochromocytoma and functional paraganglioma syndrome: No longer the 10% tumor
Version of Record online: 17 FEB 2005
Copyright © 2005 Wiley-Liss, Inc.
Journal of Surgical Oncology
Special Issue: Endocrine Surgery
Volume 89, Issue 3, pages 193–201, 1 March 2005
How to Cite
Elder, E. E., Elder, G. and Larsson, C. (2005), Pheochromocytoma and functional paraganglioma syndrome: No longer the 10% tumor. J. Surg. Oncol., 89: 193–201. doi: 10.1002/jso.20177
- Issue online: 17 FEB 2005
- Version of Record online: 17 FEB 2005
- Swedish Cancer Foundation
- Stockholm County Council
- Affinity Health, Australia
- genetic screening;
Pheochromocytomas and abdominal paragangliomas are catecholamine-producing tumors of the sympathetic nervous system, while head and neck paragangliomas are non-secreting tumors of parasympathetic origin. Recent developments in clinical and molecular research on these tumor forms have significantly clarified their genetic backgrounds and challenged the view of “pheochromocytoma as the 10% rule tumor.” Firstly, a larger proportion of these tumors are today discovered in normotensive patients during imaging carried out for other reasons than suspicion of pheochromocytoma. Secondly, although the differential diagnosis between malignant and benign tumors remains a challenge, the risk of malignancy well exceeds the classical 10% in patients with extra-adrenal disease, and/or carriers of germ-line SDHB mutations. Finally, up to a third of patients carry a germ-line mutation in a gene predisposing to pheochromocytoma and/or paraganglioma. Identification of a constitutional mutation in RET, VHL, SDHD, or SDHB has implications for clinical screening and follow-up for both the patient and for relatives at risk who can be identified by screening for the same mutation. Genetic testing in apparently sporadic cases is therefore regarded as beneficial, especially in patients diagnosed before 50 years of age, and in patients with bilateral, multifocal, malignant and/or extra-adrenal disease. J. Surg. Oncol. 2005;89:193–201. © 2005 Wiley-Liss, Inc.