{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T23:14:17Z","timestamp":1793661257880,"version":"4.5.1"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T00:00:00Z","timestamp":1632441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients with SDHC variants are underreported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>This retrospective case series collated data from 18 UK Genetics and Endocrinology departments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p>Both asymptomatic and disease\u2010affected patients with confirmed SDHC germline variants are included.<\/jats:p><\/jats:sec><jats:sec><jats:title>Measurements<\/jats:title><jats:p>Clinical data including tumour type and location, surveillance outcomes and interventions, SDHC genetic variant assessment, interpretation, and tumour risk calculation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report 91 SDHC cases, 46 probands and 45 non\u2010probands. Fifty\u2010one cases were disease\u2010affected. Median age at genetic diagnosis was 43 years (range: 11\u201379). Twenty\u2010four SDHC germline variants were identified including six novel variants. Head and neck paraganglioma (HNPGL, <jats:italic>n<\/jats:italic>\u2009=\u200930, 65.2%), extra\u2010adrenal paraganglioma (EAPGL, <jats:italic>n<\/jats:italic>\u2009=\u200913, 28.2%) and phaeochromocytomas (PCC) (<jats:italic>n<\/jats:italic>\u2009=\u20093, 6.5%) were present. One case had multiple PPGLs. Malignant disease was reported in 19.6% (9\/46). Eight cases had non\u2010PPGL SDHC\u2010associated tumours, six gastrointestinal stromal tumours (GIST) and two renal cell cancers (RCC). Cumulative tumour risk (95% CI) at age 60 years was 0.94 (CI: 0.79\u20130.99) in probands, and 0.16 (CI: 0\u20130.31) in non\u2010probands, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study describes the largest cohort of 91 SDHC patients worldwide. We confirm disease\u2010affected SDHC variant cases develop isolated HNPGL disease in nearly 2\/3 of patients, EAPGL and PCC in 1\/3, with an increased risk of GIST and RCC. One fifth developed malignant disease, requiring comprehensive lifelong tumour screening and surveillance.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14594","type":"journal-article","created":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T23:18:52Z","timestamp":1632525532000},"page":"499-512","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["SDHC phaeochromocytoma and paraganglioma: A UK\u2010wide case series"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5843-0295","authenticated-orcid":false,"given":"Sophie T.","family":"Williams","sequence":"first","affiliation":[{"name":"Department of Oncology and Metabolism University of Sheffield Sheffield UK"},{"name":"Department Medical Molecular Genetics, King's College London Guy's Hospital London 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