›› 2010, Vol. 30 ›› Issue (5): 503-.

• Monographic report (Adrenal diseases) • Previous Articles     Next Articles

Genetic screening in pheochromocytoma and paraganglioma

QI Yan, reviewer；WANG Wei-qing, reviser   

  1. Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China
  • Online:2010-05-25 Published:2010-05-28
  • Supported by:

    National Natural Science Foundation of China, 30771018

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Abstract:

The disease-causing genes for pheochromocytoma and paraganglioma included RET gene, which is associated with multiple endocrine neoplasia type 2, VHL gene with von Hippel Lindau disease, SDHx gene with paraganglioma/pheochromocytoma syndrome and NF1 gene with neurofibromatosis type 1. About 27.4% of the pheochromocytomas and paragangliomas are considered to be caused by genetic factors. Furthermore, 7.5% to 27% of patients with nonsyndromic pheochromocytoma without family history  carry mutations. Hence, genetic screening has been regarded as an important part in the diagnosis of pheochromocytoma and paragangliomas. The status of genetic screening in pheochromocytoma and paraganglioma is reviewed in this paper.

Key words: pheochromocytoma, paraganglioma, RET gene, VHL gene, SDHx gene, genetic screening