嗜铬细胞瘤和副神经节瘤的遗传筛查

嗜铬细胞瘤/副神经节瘤的致病基因主要包括与多发性内分泌腺瘤综合征2型相关的RET基因、与von Hippel-Lindau病相关的VHL基因、与副神经节瘤/嗜铬细胞瘤综合征相关的SDHx基因、与纤维神经瘤病1型相关的NF1基因。在嗜铬细胞瘤/副神经节瘤中,约有27.4%属于遗传性肿瘤;在无家族史的散发性嗜铬细胞瘤患者中,上述基因突变的携带者占7.5%～27%。因此,基因筛查已经成为嗜铬细胞瘤/副神经节瘤诊断的一个重要部分。文章对嗜铬细胞瘤/副神经节瘤的基因筛查现状及选择作一综述。

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.