Review
Familial paragangliomas
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* Corresponding author: CJM Lips lips05@zonnet.nl
1 Divisions of Internal Medicine and Endocrinology, Utrecht, The Netherlands
2 Clinical Chemistry and Haematology, Utrecht, The Netherlands
3 Biomedical Genetics, Utrecht, The Netherlands
4 Surgery of the University Medical Center Utrecht, Utrecht, The Netherlands
Hereditary Cancer in Clinical Practice 2006, 4:169-176 doi:10.1186/1897-4287-4-4-169
Published: 15 October 2006Abstract
Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect. Genetic predisposition can occur within the familial tumour syndromes multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau (VHL) and neurofibromatosis type 1 (NF-1), or be due to mutations in genes specific to the development of paraganglioma only. Compared to sporadic forms, familial paragangliomas tend to present at a younger age and at multiple sites. Tumours should be diagnosed and resected as early as possible, as it has been shown that morbidity is related to tumour size. This article gives an overview of the current literature on the origin of the different forms of paragangliomas, DNA diagnosis, as well as biochemical and radiological screening guidelines.