{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T18:23:50Z","timestamp":1792175030050,"version":"4.4.0"},"reference-count":52,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T00:00:00Z","timestamp":1741824000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI23\/00722"],"award-info":[{"award-number":["PI23\/00722"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The clinical characterization of SDHAF2-related familial paraganglioma syndrome remains elusive. The aim of this study is to contribute to the knowledge of this syndrome with valuable new information.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A total of 56 individuals with the p.(Gly78Arg) variant in the SDHAF2 gene were prospectively evaluated. Of the 33 subjects who developed paragangliomas (PGLs)\/pheochromocytomas (PCs) throughout follow-up, clinical, biochemical, and imaging data were collected. [68Ga]Ga-DOTA-TOC and [18F]DOPA positron emission tomography\/computed tomography (PET\/CT) scans were carried out on a subset of 22 patients with PGLs\/PCs to compare their accuracy; surgical specimens (n = 13) were microscopically evaluated to elucidate their potential malignant behavior.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of the 33 patients (58.9%) with SDHAF2-related tumors, 17 (51.5%) were women, with a mean age at diagnosis of 38.6 \u00b1 17.2 years. Tumor development was found to be inherited paternally in all subjects. All the patients evaluated except 1 showed head and neck PGLs. Eleven patients (33.3%) showed mediastinal and abdominal extra-adrenal PGLs and 2 patients presented PCs. Multifocality was observed in 26 subjects (78.8%). Sixteen patients (48.5%) were asymptomatic at diagnosis. Only 4 patients with PGLs\/PCs showed normetanephrine or 3-methoxytyramine secretion. Metastatic disease was observed in 2 patients (6.1%). Grading System for Adrenal Pheochromocytoma and Paraganglioma score was \u22653 in 84.6% of tumors and Pheochromocytoma of the Adrenal Gland Scaled Score was \u22654 in 69.2%. [68Ga]Ga-DOTA-TOC PET\/CT showed a greater detection rate (95.7%) of multifocal PGLs and metastatic lesions than [18F]DOPA PET\/CT (79.3%), as well as higher mean maximum standardized uptake value.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The current study offers new insights into the phenotypic characterization of SDHAF2-related paraganglioma syndrome including the development of extra-cervical PGLs and metastatic transformation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf149","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T08:17:05Z","timestamp":1741767425000},"page":"e3635-e3647","source":"Crossref","is-referenced-by-count":8,"title":["New Insights into the Clinical Characterization of <i>SDHAF2<\/i>-related Familial Paraganglioma 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