Novel EPAS1 HIF2A Mutation Associated with Paraganglioma and Polycythemia Case Report

DRA GABRIELA SANSO; SHAHISA FLORES

Cusco

Congreso; XXVIII Sociedad Latinoamericana de Endocrinología Pediátrica; 2018

SLEP

Novel EPAS1 HIF2A Mutation Associated withParaganglioma and Polycythemia Case ReportGabriela Sanso, Shahida FloresCEDIE-CONICET-FEI-Division of Endocrinology, Children?sHospital R.Background: A new syndrome of paraganglioma-polycythemia with or without Accompanying somatostatinomas has-beenrecently described, or mosaic Caused by somatic mutations of gainof function EPAS1, the gene encoding for the hypoxia-induciblefactor (HIF2A). Paragangliomas and somatostatinomas are catecholamine and somatostatin producing neuroendocrine tumors.Case Report: We describe the clinical Characteristics and themolecular findings of a patient WHO presented polycythemia andmalignant paraganglioma with. She presented with polycythemiaat 3 years of age and at 8 years old had a stroke due to a hypertensive crisis. A unilateral adrenal pheochromocytoma was diagnosed. Furthermore, she developed multiple abdominal surgeriesparagangliomas which Several required. The patient has no evidence of somatostatinomas, but maintained high hematocrit.Methods: Obtained DNA from blood, buccal cells and archivalmaterials from two separate paragangliomas was Analyzed forSDHB, SDHD and EPAS1 encoding gene mutations. Results: AHIF2A/EPAS1 mutation (c.1592C>T, p.P531L) was found in thetwo separate paragangliomas, with approximately 20% and 15% ofvariant allele frequency (VAF). The mutation was detected inblood at Present