{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T06:19:51Z","timestamp":1788848391263,"version":"build-2803163510"},"reference-count":43,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T00:00:00Z","timestamp":1776211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>SDHB-related pheochromocytoma and paraganglioma (PPGL) are associated with a high risk of metastasis. Minimal data are available on these genetically based tumors from the Middle East.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To characterize the phenotype, genotype, and outcome of SDHB-associated PPGLs in Saudi Arabia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively reviewed a cohort of 37 patients with SDHB-associated PPGL. DNA was isolated from peripheral blood samples, and genetic testing was performed using whole-exome sequencing (WES) and confirmed by Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 37 patients with SDHB mutations, including 14 (37.8%) females and 23 (62.2%) males, with a median age at diagnosis of 28 years (range, 6-49). Nineteen patients (51.4%) had a positive family history of PPGL, and 18 (48.6%) were apparently sporadic but tested positive for SDHB mutations. The most common presentation was hyperadrenergic symptoms (54%), and the most common tumor location was the upper abdomen (45.9%). The most common SDHB mutation (likely a founder mutation) was the truncating mutation c.268T&amp;gt;C (p.R90*), which occurred in 23\/37 patients (62%). This mutation was associated with high rates of locally invasive and\/or distant metastasis (56.5%) and mortality (21.7%). At a median follow-up of 7 years (IQR 3.5-15), only 10 patients (27%) achieved remission, 7 (18.9%) died due to PPGL, one patient died due to leukemia, and 19 patients (51.4%) continued to have evidence of locally invasive or metastatic disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In this Middle Eastern cohort, SDHB-associated PPGLs were characterized by high rates of locally invasive or metastatic disease, frequently associated with a possible founder mutation (p.R90*), and substantial mortality.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/jendso\/bvag070","type":"journal-article","created":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T11:22:43Z","timestamp":1776079363000},"source":"Crossref","is-referenced-by-count":1,"title":["<i>SDHB<\/i>\n                    -associated paraganglioma in Saudi Arabia: High metastatic risk linked to a likely founder mutation"],"prefix":"10.1210","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-3624","authenticated-orcid":false,"given":"Ali S","family":"Alzahrani","sequence":"first","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Centre , P.O. Box 3354, Riyadh 11211 ,","place":["Saudi Arabia"]},{"name":"Molecular Endocrinology Section, Research and Innovation, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balgees","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Molecular Endocrinology Section, Research and Innovation, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allianah","family":"Benito","sequence":"additional","affiliation":[{"name":"Molecular Endocrinology Section, Research and Innovation, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gamal","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital & Research Centre , Riyadh 11211 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,4,15]]},"reference":[{"issue":"6","key":"2026051912492570200_bvag070-B1","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1210\/jc.2014-1498","article-title":"Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline","volume":"99","author":"Lenders","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2026051912492570200_bvag070-B2","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/s41574-023-00926-0","article-title":"Management of phaeochromocytoma and 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