Phaeochromocytomas are a type of tumour that develops in the adrenal glands. These are small glands that sit on top of the kidneys, and produce a number of different hormones. 9 out 10 phaeochromocytomas are benign (non-cancerous), but about 1 in 10 is a cancer.
Most phaeochromocytomas are not linked to an inherited condition (these are called sporadic tumours). However, it has recently been realised that up to 1 in 3 phaeochromocytomas may be the result of inheriting a faulty gene. There are a number of faulty genes that may be involved. Any one of them can lead to an increased risk of phaeochromocytoma.
These faulty genes are linked to several different familial conditions.
- Multiple endocrine neoplasia 2. About half the people affected develop a phaeochromocytoma.
- Von Hippel Lindau syndrome. About 1 in 15 people affected develops a phaeochromocytoma.
- Neurofibromatosis type 1 (NF1). Affects about 1 in 3000 people. It causes coffee coloured patches on the skin and benign tumours of the nerves. About 1 in 100 people with NF1 develops a phaeochromocytoma.
- Familial phaeochromocytoma. Causes no other signs of illness. It may be linked to between a quarter and a third of cases of phaeochromocytoma.
With the exception of tumours linked to NF1, phaeochromocytomas caused by inheriting a faulty gene, tend to occur at a younger age than sporadic cases. Because of this it has been suggested that anyone under the age of 50, who develops a phaeochromocytoma, should be offered genetic testing.
References
- Pheochromocytoma: the Expanding Genetic Differential Diagnosis Bryant J et al. JNCI 95(16) 2003
- Evolving concepts in pheochromocytoma and paraganglioma. Dahia P. Current Opinion in Oncology 18:1-8 2006
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