{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:10:22Z","timestamp":1756293022090,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,10,7]]},"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>A 31-year-old Caucasian woman underwent a standard workup as a potential kidney transplant donor. Kidney donor protocol CT showed a left para-aortic hypervascular mass suspicious for a paraganglioma. Biochemical workup revealed elevated urinary catecholamines, supporting this suspicion. The patient underwent surgical resection with histopathological evaluation that confirmed the diagnosis. Endocrine evaluation 2 years later revealed a family history of a cousin with a history of pheochromocytoma as a teenager. A genetic panel identified a missense mutation in succinate dehydrogenase C (c.202T&gt;C; p.Ser68Pro), which was described as a variant of unknown significance. In silico analysis suggested that it may be a deleterious mutation. We concluded that this mutation may be pathogenic, considering these supporting pieces of evidence and her early-onset paraganglioma. This report highlights the importance of genetic screening in patients with paragangliomas\/pheochromocytomas, since many cases are familial. Additionally, it underscores the importance of evaluating and documenting cases of variants of unknown significance.<\/jats:p>","DOI":"10.1136\/bcr-2021-245427","type":"journal-article","created":{"date-parts":[[2021,10,18]],"date-time":"2021-10-18T17:51:41Z","timestamp":1634579501000},"page":"e245427","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of novel missense mutation in a patient with an asymptomatic para-aortic paraganglioma"],"prefix":"10.1136","volume":"14","author":[{"given":"Salah","family":"Daghlas","sequence":"first","affiliation":[{"name":"Department of Endocrinology, University of Missouri System, Columbia, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajani","family":"Gundluru","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University of Missouri System, Columbia, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9296-9227","authenticated-orcid":false,"given":"Ayman","family":"Nada","sequence":"additional","affiliation":[{"name":"Radiology Department, University of Missouri System, Columbia, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uzma","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University of Missouri System, Columbia, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,10,18]]},"reference":[{"key":"2025082703435234000_14.10.e245427.1","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1056\/NEJMra1806651","article-title":"Pheochromocytoma and paraganglioma","volume":"381","author":"Neumann","year":"2019","journal-title":"N Engl J Med Overseas Ed"},{"key":"2025082703435234000_14.10.e245427.2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1588"},{"key":"2025082703435234000_14.10.e245427.3","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/joim.12869","article-title":"Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma","volume":"285","author":"Muth","year":"2019","journal-title":"J Intern Med"},{"key":"2025082703435234000_14.10.e245427.4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1498"},{"key":"2025082703435234000_14.10.e245427.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082703435234000_14.10.e245427.6","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"2025082703435234000_14.10.e245427.7","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"2025082703435234000_14.10.e245427.8","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"2025082703435234000_14.10.e245427.9","doi-asserted-by":"crossref","first-page":"E1482","DOI":"10.1210\/jc.2013-3853","article-title":"The clinical phenotype of SDHC -associated hereditary paraganglioma syndrome (PGL3)","volume":"99","author":"Else","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082703435234000_14.10.e245427.10","doi-asserted-by":"publisher","DOI":"10.1001\/jama.294.16.2057"},{"key":"2025082703435234000_14.10.e245427.11","doi-asserted-by":"publisher","DOI":"10.1002\/prot.10611"},{"key":"2025082703435234000_14.10.e245427.12","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"2025082703435234000_14.10.e245427.13","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"2025082703435234000_14.10.e245427.14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21438"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-245427","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:43:59Z","timestamp":1756291439000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-245427"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":14,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2021,10,18]]},"published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1136\/bcr-2021-245427"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-245427","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,10]]}}}