Genetic screening in pheochromocytoma and paraganglioma

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.