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Human Molecular Genetics, 2002, Vol. 11, No. 20 2347-2354
© 2002 Oxford University Press

The pressure rises: update on the genetics of phaeochromocytoma

Eamonn R. Maher1 and Charis Eng2-4,*

1Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, School of Medicine, University of Birmingham and West Midlands Genetics Service, Birmingham, UK, and 2Clinical Cancer Genetics Program, 3Human Cancer Genetics Program, Comprehensive Cancer Center and 4Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA

Received July 17, 2002; Accepted July 22, 2002

Phaeochromocytomas are neoplasias of neural crest origin arising from the adrenal medulla. Extra-adrenal phaeochromocytomas occur and may be referred to as paragangliomas, although this term is also used to describe vascular head and neck tumours, which most commonly develop at the carotid bifurcation. Historically, genetic factors have been implicated in up to 10% of phaeochromocytoma cases, but recent data suggest that germline mutations may be detected in ~25% of unselected cases. The most frequent causes of phaeochromocytoma susceptibility are von Hippel–Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2), the newly delineated phaeochromocytoma–paraganglioma syndrome and, less commonly, neurofibromatosis type 1. Germline mutations in three of the succinate dehydrogenase (SDH, mitochondrial complex II) subunits (SDHD, SDHB and SDHC) cause susceptibility to head and neck paragangliomas, and may be found in ~20% of unselected patients. In addition, germline SDHD and SDHB mutations may cause phaeochromocytoma susceptibility with or without associated head and neck paragangliomas. Recent studies suggest that germline SDHD and SDHB mutations are an important cause of familial and isolated phaeochromocytoma. The mechanism by which SDH subunit mutations predispose to phaeochromocytomas has not been defined in detail, but dysregulation of hypoxia-responsive genes and impairment of mitochondria-mediated apoptosis have both been suggested.

* To whom correspondence should be addressed at: Human Cancer Genetics Program, The Ohio State University, 420 W. 12th Avenue, Suite 690 TRMF, Columbus, OH 43210, USA. Tel: +1 6142922347; Fax: +1 6146883582; Email: eng-1{at}medctr.osu.edu or ceng{at}hgmp.mrc.ac.uk


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