遗传相关的嗜铬细胞瘤/副神经节瘤的研究进展

邓建华; 李汉忠

遗传相关的嗜铬细胞瘤/副神经节瘤的研究进展

邓建华,
李汉忠^,

- 中国医学科学院北京协和医院泌尿外科(北京, 100730)
基金项目:
国家自然科学基金（编号30772165）

详细信息

通讯作者: 李汉忠,E-mail:lihzhpumch@163.com

中图分类号: R736.6

收稿日期: 2012-07-27

An update on the hereditary paraganglioma, pheochromocytoma

DENG Jianhua,
LI Hanzhong^,

- Department of Urology & Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China

More Information

Corresponding author: LI Hanzhong, E-mail: lihzhpumch@163.com

Received Date: 27 July 2012

摘要

摘要: 虽然多数嗜铬细胞瘤（PHEO）和副神经节瘤（PGL）是散发性的，但也有超过三分之一的患者与已知的10余个易感基因相关，新报道的两个基因TMEM127和MAX也与PCC/PGL的发生相关。尽管这些肿瘤在总人口中的发病率为0.3/100万人，但它们通常比任何其他类型癌症的遗传突变都更为常见。在18岁以下的患者中，约56%系因遗传性DNA突变所致；在10岁以下的患儿中，这一比例可高达70%。本文对遗传相关的基因突变与PHEO/PGL的一些最新研究进展作一综述。
- 嗜铬细胞瘤 /
- 副神经节瘤 /
- 遗传 /
- 基因突变
Abstract: Although most of pheochromocytoma (PHEO)s/paraganglioma (PGL)s is sporadic, but there are more than one-third of the patients with 10 known susceptibility genes. There are two latest genes (TMEM127 and MAX) are also associated with PCC/PGL. The incidence of these tumors in the general population is about 0.3/millions of people, but genetic mutations are usually more common than any other type of tumor. Those PCC/PGLs patients under the age of 18 years is about 56% due to hereditary DNA mutation, the ratio can be as high as 70% of children under the age of 10. So we summerize some studies progress in hereditary pheochromocytoma/paraganglioma with gene mutations.
- pheochromocytoma /
- paraganglioma /
- hereditary /
- genetic mutation

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