Polycythemia and Paraganglioma With a Novel Somatic <i>HIF2A</i> Mutation in a Male

Abstract excerpt

Recently, a new syndrome of paraganglioma, somatostatinoma, and polycythemia has been discovered (known as Pacak-Zhuang syndrome). This new syndrome, with somatic HIF2A gain-of-function mutations, has never been reported in male patients. We describe a male patient with Pacak-Zhuang syndrome who carries a newly discovered HIF2A mutation. Congenital polycythemias have diverse etiologies, including germline...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal and Paraganglionic Tumors
• Share to Cancer, Hypoxia, and Metabolism
• Share to Pituitary Gland Disorders and Treatments