Somatic IDH1 hotspot variants in Chinese patients with pheochromocytomas and paragangliomas.

Minghao LiYazhi HeYingxian PangJing ZhangYu FengYao HeXiaowen XuYongbao WeiDewen ZhongWanglong DengLong WangBin YanYazhuo JiangNing XuHai CaiYanlin WenJinzhuo NingYujun LiuXin GaoZhongyan ShanLongfei Liu Xiaochun TengSusan RichterJing-Jing Jiang

Published in: The Journal of clinical endocrinology and metabolism (2022)

The somatic IDH1 hotspot variants causes PPGL development in some Chinese patients, especially among those apparently sporadic PGLs with a non-adrenergic phenotype and without mutations in major PPGL driver genes.

Keyphrases

copy number
genome wide
low grade
dna methylation
wild type
late onset
high grade
gene expression
transcription factor
genome wide analysis