{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T16:27:40Z","timestamp":1789230460986,"version":"build-2803163510"},"reference-count":39,"publisher":"Bioscientifica","issue":"10","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7,14]]},"abstract":"<jats:p>\n                    This article is a summary of the plenary lecture presented by Jared Rosenblum that was awarded the Manger Prize at the Sixth International Symposium on Pheochromocytoma\/Paraganglioma held on 19\u201322 October 2022 in Prague, Czech Republic. Herein, we review our initial identification of a new syndrome of multiple paragangliomas, somatostatinomas, and polycythemia caused by early postzygotic mosaic mutations in\n                    <jats:italic>EPAS1<\/jats:italic>\n                    , encoding hypoxia-inducible factor 2 alpha (HIF-2\u03b1), and our continued exploration of new disease phenotypes in this syndrome, including vascular malformations and neural tube defects. Continued recruitment and close monitoring of patients with this syndrome as well as the generation and study of a corresponding disease mouse model as afforded by the pheochromocytoma\/paraganglioma translational program at the National Institutes of Health has provided new insights into the natural history of these developmental anomalies and the pathophysiologic role of HIF-2\u03b1. Further, these studies have highlighted the importance of the timing of genetic defects in the development of related disease phenotypes. The recent discovery and continued study of this syndrome has not only rapidly evolved our understanding of pheochromocytoma and paraganglioma but also deepened our understanding of other developmental tumor syndromes, heritable syndromes, and sporadic diseases.\n                  <\/jats:p>","DOI":"10.1530\/erc-23-0050","type":"journal-article","created":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T16:35:27Z","timestamp":1689352527000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":12,"title":["Pacak\u2013Zhuang syndrome: a model providing new insights into tumor syndromes"],"prefix":"10.1530","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5941-9082","authenticated-orcid":true,"given":"Jared S","family":"Rosenblum","sequence":"first","affiliation":[{"name":"Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herui","family":"Wang","sequence":"additional","affiliation":[{"name":"Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1956-6077","authenticated-orcid":true,"given":"Matthew A","family":"Nazari","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Development, Bethesda, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0009-7370","authenticated-orcid":true,"given":"Zhengping","family":"Zhuang","sequence":"additional","affiliation":[{"name":"Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3541-3767","authenticated-orcid":true,"given":"Karel","family":"Pacak","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Development, Bethesda, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Biological Chemistry","first-page":"33571","article-title":"A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism","volume":"288","author":"Arsenault","year":"2013","unstructured":"Arsenault PRPei FLee RKerestes HPercy MJKeith BSimon MCLappin TRJKhurana TS & Lee FS2013A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism. 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