{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T01:04:25Z","timestamp":1769043865134,"version":"3.49.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T00:00:00Z","timestamp":1586995200000},"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":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Mutations in the genes coding for succinate dehydrogenase (<jats:italic>SDHx<\/jats:italic>) are the most frequent germline alterations in pheochromocytomas and paragangliomas. Evidence for the advantages associated with presymptomatic screening for <jats:italic>SDHx<\/jats:italic> mutation carriers is scarce. This study describes a nationwide cohort of these mutation carriers and aims to compare patients with clinical manifestations of the disease and those diagnosed through genetic screening. DESIGN: Cross\u2010sectional study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p><jats:italic>SDHx<\/jats:italic> mutation carriers (n\u00a0=\u00a0118) followed through the Portuguese Oncology referral centres: 41 probands and 77 nonprobands.<\/jats:p><\/jats:sec><jats:sec><jats:title>Measurements<\/jats:title><jats:p>All participants were subjected to biochemical and body imaging examinations for a complete assessment of the extent and spread of disease. Clinical data obtained this way were further analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean age of this cohort was 44.5\u00a0\u00b1\u00a017.4\u00a0years, and more than half carried the same founder <jats:italic>SDHB<\/jats:italic> mutation. About 50.8% of the mutation carriers developed pheochromocytomas or paragangliomas. Compared to patients diagnosed through genetic screening, those diagnosed clinically were characterized by larger tumours (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.001), more frequent metastases (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.024), were more frequently subjected to surgery (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.011) and radiotherapy (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.013), and had worse outcomes, such as macroscopic positive margins (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.034). Persistent and\/or unresectable disease and disease\u2010related mortality were also more frequent in symptomatic patients compared to those diagnosed through genetic screening (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.014).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this nationwide cohort study, a large proportion of mutation carriers were found to develop <jats:italic>SDHx<\/jats:italic>\u2010related neoplasia. Genetic testing and subsequent follow\u2010up resulted in the diagnosis of smaller and nonmetastatic tumours, fewer treatment procedures, fewer complications and greater number of disease\u2010free patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14184","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T13:31:25Z","timestamp":1584451885000},"page":"545-553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2786-3650","authenticated-orcid":false,"given":"Raquel G.","family":"Martins","sequence":"first","affiliation":[{"name":"Endocrinology Department Portuguese Oncology Institute of Coimbra Coimbra Portugal"},{"name":"Medical Psychology Unit Department of Clinical Neurosciences and Mental Health School of Medicine University of Porto Porto Portugal"},{"name":"Research Centre Portuguese Oncology Institute of Porto Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuno","family":"Cunha","sequence":"additional","affiliation":[{"name":"Clinical Laboratory Department Portuguese Oncology Institute of Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helder","family":"Sim\u00f5es","sequence":"additional","affiliation":[{"name":"Endocrinology Department Portuguese Oncology Institute of Lisbon Lisbon Portugal"},{"name":"Faculty of Medical Sciences Nova Medical School NOVA University of Lisbon Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jo\u00e3o","family":"Matos","sequence":"additional","affiliation":[{"name":"Endocrinology Department Portuguese Oncology Institute of Porto Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o","family":"Silva","sequence":"additional","affiliation":[{"name":"Genetics Department and Research Centre Portuguese Oncology Institute of Porto Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Torres","sequence":"additional","affiliation":[{"name":"Endocrinology Department Portuguese Oncology Institute of Porto Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Endocrinology Department Portuguese Oncology Institute of Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeriano","family":"Leite","sequence":"additional","affiliation":[{"name":"Endocrinology Department Portuguese Oncology Institute of Lisbon Lisbon Portugal"},{"name":"Faculty of Medical Sciences Nova Medical School NOVA University of Lisbon Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel R.","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Genetics Department and Research Centre Portuguese Oncology Institute of Porto Porto Portugal"},{"name":"Institute of Biomedical Sciences Abel Salazar (ICBAS) University of Porto Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jo\u00e3o","family":"Bugalho","sequence":"additional","affiliation":[{"name":"Endocrinology, Diabetes and Metabolism Department CHULN\u2010Hospital Santa Maria Lisbon Portugal"},{"name":"Faculty of Medicine University of Lisbon Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-013-2942-5"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3648"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1304594"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq206"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/321282"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/81551"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5454.848"},{"issue":"24","key":"e_1_2_8_9_1","first-page":"6822","article-title":"Somatic and occult germ\u2010line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma","volume":"60","author":"Gimm O","year":"2000","journal-title":"Cancer 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