Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.

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Abstract

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.

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Journal

Journal ID (iso-abbrev): J. Clin. Endocrinol. Metab.

Title: The Journal of clinical endocrinology and metabolism

ISSN (Electronic): 1945-7197

ISSN (Print): 0021-972X

Publication date (Electronic): Feb 2014

Volume: 99

Issue: 2

Affiliations

[1 ] Assistance Publique-Hôpitaux de Paris (A.B., C.S., A-P.G.-R.), Hôpital Européen Georges Pompidou (HEGP), Service de Génétique, 75908 Paris, France; Clinique d'Endocrinologie (S.S., M.L., A.M., B.C.), l'Institut du Thorax, Centre Hospitalier Universitaire (CHU) de Nantes, 44007 Nantes, France; Département d'Oncologie et d'Hématologie Pédiatriques et de Thérapie Cellulaire (L.M.), CHU de Nancy, Hôpital d'Enfants, 54500 Vandœuvre-lès-Nancy, France; Inserm (M.M., J.F., A.-P.G.-R.), Unité Mixte de Recherche 970, Centre de recherche cardiovasculaire de l'HEGP, 75015 Paris, France; Service d'Anatomopathologie (M.-F.H.), CHU de Nantes, 44007 Nantes, France; INSERM (M.-F.H.), UMR957, Faculté de Médecine, 44035 Nantes, France; and Université Paris Descartes (J.F., A.-P.G.-R.), Faculté de Médecine, 75006 Paris Cité Sorbonne, France.

Article

Publisher Item ID: jc.2013-2600

DOI: 10.1210/jc.2013-2600

PubMed ID: 24276449

SO-VID: 4dd49b07-a257-4fa1-81df-538f0a4a56e4

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