Phaeochromocytomas and sympathetic paragangliomas.
BACKGROUND
About 24 per cent of phaeochromocytomas (PCCs) and sympathetic paragangliomas (sPGLs) appear in familial cancer syndromes, including multiple endocrine neoplasia type 2, von Hippel-Lindau disease, neurofibromatosis type 1 and PCC-paraganglioma syndrome. Identification of these syndromes is of prime importance for patients and their relatives. Surgical resection is the treatment of choice for both PCC and sPGL, but controversy exists about the management of patients with bilateral or multiple tumours.


METHODS
Relevant medical literature from PubMed, Ovid and Embase websites until 2009 was reviewed for articles on PCC, sPGL, hereditary syndromes and their treatment.


CONCLUSIONS
Genetic testing for these syndromes should become routine clinical practice for those with PCC or sPGL. Patients should be referred to a clinical geneticist. Patients and family members with proven mutations should be entered into a standardized screening protocol. The preferred treatment of PCC and PGL is surgical resection; to avoid the lifelong consequences of bilateral adrenalectomy, cortex-sparing adrenalectomy is the treatment of choice.
Petri
B-J
BJ
Department of Pathology, Erasmus MC-University Medical Centre, Rotterdam, The Netherlands.
van Eijck
C H J
CH
de Herder
W W
WW
Wagner
A
A
de Krijger
R R
RR
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D000315:Adrenalectomy / Q000379:methods*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D009154:Mutation / Q000235:genetics; D009423:Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*