{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T07:03:15Z","timestamp":1775026995824,"version":"3.50.1"},"reference-count":16,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T00:00:00Z","timestamp":1567641600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>At least 30% of all pheochromocytomas (PCCs)\/paragangliomas (PGLs) arise in patients with a germline predisposition syndrome. Variants in succinate dehydrogenase subunits A, B, C, and D (SDHA, SDHB, SDHC, and SDHD) are the most common pathogenic germline alterations. Few pathogenic variants have been reported in succinate dehydrogenase assembly factor 2 (SDHAF2). Here, we describe a 30-year-old female patient who presented with a left-sided neck mass, which was later characterized as a carotid body PGL. Genetic testing revealed a likely pathogenic SDHAF2 variant (c.347G&gt;A;p.W116X). Two sisters carried the same pathologic variant, and screening protocols were recommended. Whole-body MRI revealed thyroid nodules; this testing was followed by fine-needle aspiration, which confirmed papillary thyroid carcinoma in one sister and a follicular adenoma in the other. The two sisters then underwent hemithyroidectomy and total thyroidectomy, respectively. Because evidence for pathogenic variants in SDHAF2 causing predisposition to PCC\/PGL is limited, we discuss the challenges in mutational variant interpretation and decision making regarding screening for associated tumors.<\/jats:p>","DOI":"10.1210\/js.2018-00353","type":"journal-article","created":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T09:07:02Z","timestamp":1567674422000},"page":"2151-2157","source":"Crossref","is-referenced-by-count":11,"title":["A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8540-8248","authenticated-orcid":false,"given":"Katherine I","family":"Wolf","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0458-1952","authenticated-orcid":false,"given":"Michelle F","family":"Jacobs","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Genetic Medicine, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohit","family":"Mehra","sequence":"additional","affiliation":[{"name":"Department of Pathology, Michigan Center for Translational Pathology, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya","family":"Begani","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew S","family":"Davenport","sequence":"additional","affiliation":[{"name":"Department of Radiology, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence J","family":"Marentette","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory J","family":"Basura","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Kresge Hearing Research Institute, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David T","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Endocrine Surgery, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Else","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, Michigan Medicine, Ann Arbor, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2019,9,5]]},"reference":[{"issue":"5944","key":"2019103013325274900_bib1","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1126\/science.1175689","article-title":"SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma","volume":"325","author":"Hao","year":"2009","journal-title":"Science"},{"issue":"4","key":"2019103013325274900_bib2","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/BF00569208","article-title":"Genetic aspects of nonchromaffin paraganglioma","volume":"60","author":"van Baars","year":"1982","journal-title":"Hum Genet"},{"issue":"4","key":"2019103013325274900_bib3","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S1470-2045(10)70007-3","article-title":"SDHAF2 mutations in familial and sporadic paraganglioma and 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characterization of the pheochromocytoma and paraganglioma susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention","volume":"3","author":"Bausch","year":"2017","journal-title":"JAMA Oncol"},{"issue":"7","key":"2019103013325274900_bib11","doi-asserted-by":"crossref","first-page":"E1392","DOI":"10.1210\/jc.2013-4536","article-title":"Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation","volume":"99","author":"Casey","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2019103013325274900_bib12","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1210\/js.2017-00330","article-title":"Utility of population-level DNA sequence data in the diagnosis of hereditary endocrine disease","volume":"1","author":"Newey","year":"2017","journal-title":"J Endocr Soc"},{"issue":"2","key":"2019103013325274900_bib13","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1530\/ERC-14-0537","article-title":"Germline and 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