Importantly, the association of EPAS1 DNA number amplification (p = 0.037) and EPAS1 mRNA expression (p = 0.001) with tumour location (adrenal gland versus carotid body) suggested the clinical significance of EPAS1 in the carcinogenesis of phaeochromocytomas and paragangliomas. The gene discussed is EPAS1; the disease is paraganglioma.