Of particular interest, pheochromocytoma carcinogenesis is clinically associated with PHD2 loss-of-function mutations and HIF2α gain-of-function mutations in addition to pVHL loss-of-function mutations (Gardie et al., 2014; Ladroue et al., 2008; Därr et al., 2016; Taieb et al., 2016; Tarade et al., 2018). Here, EPAS1 is linked to pheochromocytoma.