{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T10:59:55Z","timestamp":1789901995011,"version":"4.0.1"},"reference-count":47,"publisher":"Bioscientifica","issue":"12","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>\n                    Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (\n                    <jats:italic>HIF2A<\/jats:italic>\n                    ). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11\u201346). Two were found to have\n                    <jats:italic>HIF2A<\/jats:italic>\n                    somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL\/SOM developed. PGLs were found at a median age of 17 years (range 8\u201338) and SOMs at 29 years (range 22\u201338). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel\u2013Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [\n                    <jats:sup>18<\/jats:sup>\n                    F]-fluorodihydroxyphenylalanine ([\n                    <jats:sup>18<\/jats:sup>\n                    F]-FDOPA). Therefore, [\n                    <jats:sup>18<\/jats:sup>\n                    F]-FDOPA PET\/CT, not [\n                    <jats:sup>68<\/jats:sup>\n                    Ga]-(DOTA)-[Tyr3]-octreotate ([\n                    <jats:sup>68<\/jats:sup>\n                    Ga]-DOTATATE) PET\/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.\n                  <\/jats:p>","DOI":"10.1530\/erc-16-0231","type":"journal-article","created":{"date-parts":[[2016,9,27]],"date-time":"2016-09-27T22:02:17Z","timestamp":1475013737000},"page":"899-908","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":73,"title":["Novel insights into the polycythemia\u2013paraganglioma\u2013somatostatinoma syndrome"],"prefix":"10.1530","volume":"23","author":[{"given":"Roland","family":"D\u00e4rr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Nambuba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaydira","family":"Del 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