Molecular evaluation of a sporadic paraganglioma with concurrent IDH1 and ATRX mutations

ConclusionsThis case represents the first concurrence ofIDH1 andATRX mutations in PPGLs. Although relatively rare, a somatic R132C mutation ofIDH1 might play a role in a small subset of sporadic PPGLs.

http://link.springer.com/10.1007/s12020-018-1617-1

Source: Endocrine - July 16, 2018 Category: Endocrinology Source Type: research