J Clin Endocrinol Metab
February 2014
Context: HIF2A germline mutations were known to cause congenital polycythemia. Recently, HIF2A somatic mutations were found in several patients with polycythemia and paraganglioma, pheochromocytoma, or somatostatinoma, suggesting the occurrence of a de novo postzygotic HIF2A mutation that has not been demonstrated clearly.
Patients: Patient 1 is a woman suffering from polycythemia diagnosed at the age of 16 years.