{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:07:04Z","timestamp":1740136024460,"version":"3.37.3"},"reference-count":12,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T00:00:00Z","timestamp":1528243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"US National Institutes of Health","doi-asserted-by":"crossref","award":["GM114102"],"award-info":[{"award-number":["GM114102"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Research Service Award Institutional Predoctoral Training","award":["T32CA148724"],"award-info":[{"award-number":["T32CA148724"]}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Mutations in genes encoding for the succinate dehydrogenase (SDH) complex are linked to hereditary paraganglioma syndromes. Paraganglioma syndrome 3 is associated with mutations inSDHC and typically manifests as benign, nonfunctional head and neck paragangliomas.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>We describe a case of a 51-year-old woman who initially presented with diarrhea and hypertension and was found to have a retroperitoneal mass, which was resected with a pathology consistent with paraganglioma. Five years later, her symptoms recurred, and she was found to have new retroperitoneal lymphadenopathy and lytic lesions in the first lumbar vertebral body and the right iliac crest, which were visualized on CT scan and octreoscan but not on iodine-123-meta-iodobenzylguanidine (123I-MIBG) and bone scans. She had significantly elevated 24-hour urine norepinephrine and dopamine. The patient received external beam radiation and a series of different antineoplastic agents. Her disease progressed, and she eventually expired within 2 years. Genetic testing revealed a heterozygousSDHC c.43C&amp;gt;T, p.Arg15X mutation, which was also detected in her daughter and her grandson, both of whom have no biochemical or imaging evidence of paraganglioma syndrome yet.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We report a unique case of functional, metastatic abdominal paraganglioma associated withSDHC germline mutation. Our case exemplifies thatSDHC germline mutation has variable penetrance, which may manifest with an aggressive biology that could be missed by a123I-MIBG scan.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2017-01302","type":"journal-article","created":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T18:07:27Z","timestamp":1528308447000},"page":"2802-2806","source":"Crossref","is-referenced-by-count":5,"title":["A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With anSDHC Germline Mutation"],"prefix":"10.1210","volume":"103","author":[{"given":"Raquel Kristin S","family":"Ong","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolism, Albany Medical College, Albany, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahida K","family":"Flores","sequence":"first","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, Texas"},{"name":"Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L","family":"Reddick","sequence":"first","affiliation":[{"name":"Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas"},{"name":"Department of Pathology, University of Texas Health Science Center at San Antonio, San Antonio, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia L M","family":"Dahia","sequence":"first","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, Texas"},{"name":"Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Shawa","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolism, Albany Medical College, Albany, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2018,6,6]]},"reference":[{"issue":"5","key":"2020070111335601800_B1","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1245\/s10434-013-2942-5","article-title":"Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing","volume":"20","author":"Fishbein","year":"2013","journal-title":"Ann Surg Oncol"},{"issue":"6","key":"2020070111335601800_B2","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1046\/j.1365-2265.2003.01914.x","article-title":"Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility","volume":"59","author":"Astuti","year":"2003","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"6","key":"2020070111335601800_B3","doi-asserted-by":"crossref","first-page":"R253","DOI":"10.1530\/ERC-11-0170","article-title":"Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas","volume":"18","author":"Welander","year":"2011","journal-title":"Endocr Relat Cancer"},{"issue":"6","key":"2020070111335601800_B4","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1038\/modpathol.2015.41","article-title":"SDHB\/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a multinational study of the European Network for the Study of Adrenal Tumors (ENS@T)","volume":"28","author":"Papathomas","year":"2015","journal-title":"Mod Pathol"},{"issue":"11","key":"2020070111335601800_B5","doi-asserted-by":"crossref","first-page":"L79","DOI":"10.1530\/ERC-17-0359","article-title":"Molecular and phenotypic evaluation of a novel germlineTMEM127 mutation with an uncommon clinical presentation","volume":"24","author":"Deng","year":"2017","journal-title":"Endocr Relat Cancer"},{"issue":"3","key":"2020070111335601800_B6","doi-asserted-by":"crossref","first-page":"E489","DOI":"10.1210\/jc.2013-3486","article-title":"Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*)","volume":"99","author":"Bickmann","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2020070111335601800_B7","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1007\/s10689-015-9821-0","article-title":"Metastatic sympathetic paraganglioma in a patient with loss of the SDHC gene","volume":"14","author":"Rich","year":"2015","journal-title":"Fam Cancer"},{"issue":"2","key":"2020070111335601800_B8","doi-asserted-by":"crossref","first-page":"190","DOI":"10.4158\/EP15889.OR","article-title":"An aggressive temporal bone SDHC paraganglioma associated with increased HIF-2\u03b1 signaling","volume":"22","author":"Isaacson","year":"2016","journal-title":"Endocr Pract"},{"issue":"2","key":"2020070111335601800_B9","first-page":"685","article-title":"[(123)I]metaiodobenzylguanidine and [(111)In]octreotide uptake in begnign and malignant pheochromocytomas","volume":"86","author":"van der Harst","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"2020070111335601800_B10","first-page":"1767","article-title":"Clinical impact of somatostatin receptor scintigraphy in the management of paragangliomas of the head and neck","volume":"44","author":"Duet","year":"2003","journal-title":"J Nucl Med"},{"issue":"8","key":"2020070111335601800_B11","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1210\/jc.2008-2504","article-title":"The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas","volume":"94","author":"Burnichon","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2020070111335601800_B12","doi-asserted-by":"crossref","first-page":"805","DOI":"10.21873\/anticanres.11381","article-title":"Potential pitfalls of SDH immunohistochemical detection in paragangliomas and phaeochromocytomas harbouring germlineSDHx gene mutation","volume":"37","author":"Santi","year":"2017","journal-title":"Anticancer Res"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/103\/8\/2802\/33452606\/jc.2017-01302.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/103\/8\/2802\/33452606\/jc.2017-01302.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T15:34:23Z","timestamp":1593617663000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/103\/8\/2802\/5033323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,6]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2017-01302","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"type":"print","value":"0021-972X"},{"type":"electronic","value":"1945-7197"}],"subject":[],"published-other":{"date-parts":[[2018,8]]},"published":{"date-parts":[[2018,6,6]]}}}