Minghao Li, Yazhi He, Yingxian Pang, Jing Zhang, Yu Feng, Yao He, Xiaowen Xu, Yongbao Wei, Dewen Zhong, Wanglong Deng, Long Wang, Bin Yan, Yazhuo Jiang, Ning Xu, Hai Cai, Yanlin Wen, Jinzhuo Ning, Yujun Liu, Xin Gao, Zhongyan Shan, Longfei Liu, Xiaochun Teng, Susan Richter, Jingjing Jiang
CONTEXT: IDH1 is a pheochromocytoma/paraganglioma (PPGL) susceptibility gene, though its role, especially in the Chinese population, has not been characterized. OBJECTIVE: To determine the prevalence of somatic IDH1 hotspot variants in a large cohort of Chinese patients with PPGLs and to summarize associated phenotypes. DESIGN: Retrospective cross-sectional study. SETTING: Multiple tertiary-care centers in China. PARTICIPANTS: This study was based on a main cohort of 1141 patients with PPGLs from two centers...
November 10, 2022: Journal of Clinical Endocrinology and Metabolism