Nonmosaic somatic HIF2A mutations associated with late onset polycythemia‐paraganglioma syndrome: Newly recognized subclass of polycythemia‐paraganglioma syndrome

Abstract excerpt

Background Somatic mutations in hypoxia‐inducible factor 2α ( HIF2A) are associated with polycythemia‐paraganglioma syndrome. Specifically, the classic presentation of female patients with recurrent paragangliomas (PGLs), polycythemia (at birth or in early childhood), and duodenal somatostatinomas has been described. Studies have demonstrated that somatic HIF2A mutations occur as postzygotic events and some to be...

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