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Pheochromocytoma and functional paraganglioma syndrome: No longer the 10% tumor
Author(s) -
Elder Elisabeth Edström,
Elder Grahame,
Larsson Catharina
Publication year - 2005
Publication title -
journal of surgical oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.201
H-Index - 111
eISSN - 1096-9098
pISSN - 0022-4790
DOI - 10.1002/jso.20177
Subject(s) - pheochromocytoma , sdhb , medicine , sdhd , paraganglioma , malignancy , disease , differential diagnosis , germline mutation , pathology , mutation , gene , genetics , biology
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.