{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:02:19Z","timestamp":1790229739953,"version":"4.1.0"},"reference-count":29,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T00:00:00Z","timestamp":1606521600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>When an SDHx mutation is identified in a patient with a pheochromocytoma (PCC) or a paraganglioma (PGL), predictive genetic testing can detect mutation carriers that would benefit from screening protocols.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To define the tumor detection rate in a large cohort of asymptomatic SDHX mutation carriers.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design and Setting<\/jats:title>\n                  <jats:p>Retrospective multicentric study in 6 referral centers.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Patients<\/jats:title>\n                  <jats:p>Between 2005 and 2019, 249 asymptomatic SDHx (171 SDHB, 31 SDHC, 47 SDHD) mutation carriers, with at least 1 imaging work-up were enrolled.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Initial work-up, including anatomical (98% of subjects [97\u2013100% according to center]) and\/or functional imaging (67% [14\u201390%]) detected 48 tumors in 40 patients. After a negative initial work-up, 124 patients benefited from 1 to 9 subsequent follow-up assessments (mean: 1.9 per patient), with a median follow-up time of 5 (1\u201313) years. Anatomical (86% [49\u2013100 %]) and\/or functional imaging (36% [7\u201360 %]) identified 10 new tumors (mean size: 16 mm [4\u201350]) in 10 patients. Altogether, 58 tumors (55 paraganglioma [PGL], including 45 head and neck PGL, 2 pheochromocytoma [PCC], 1 gastrointestinal stromal tumor [GIST]), were detected in 50 patients (22 [13%] SDHB, 1 [3.2%] SDHC, and 27 [57%] SDHD), with a median age of 41 years old [11\u201386], 76% without catecholamine secretion and 80% during initial imaging work-up.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Imaging screening enabled detection of tumors in 20% of asymptomatic SDHx mutation carriers, with a higher detection rate in SDHD (57%) than in SDHB (13%) and SDHC (3%) mutation carriers, arguing for a gene-by-gene approach. Prospective studies using well-defined protocols are needed to obtain strong and useful data.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa888","type":"journal-article","created":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T19:36:45Z","timestamp":1606592205000},"page":"e1301-e1315","source":"Crossref","is-referenced-by-count":10,"title":["Screening of a Large Cohort of Asymptomatic <i>SDHx<\/i> Mutation Carriers in Routine Practice"],"prefix":"10.1210","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9015-5249","authenticated-orcid":false,"given":"Clotilde","family":"Saie","sequence":"first","affiliation":[{"name":"Department of Nuclear Medicine, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Buffet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique AP-HP, H\u00f4pital Europ\u00e9en Georges 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