EPAS1 and polycythemia: Lorenzo et al. (2013) first reported this germline variant in a 50-year-old man with EPO-dependent polycythemia and metastatic PGL, who at age 35 years had a PGL of the organ of Zuckerkandl resected; structural modeling of c.1121T>A (p.Phe374Tyr) suggested possible interference of HIF-2α interaction with elongin C as a mechanism for gain-of-function. Welander et al. (2014) reported the variant in a 56-year-old woman with a benign 50 mm pheochromocytoma. Taïeb et al. (2016) described this variant in a 63-year-old man with sporadic CNS hemangioblastoma.