A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant

Abstract 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...

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Published inJournal of the Endocrine Society Vol. 3; no. 11; pp. 2151 - 2157
Main Authors Wolf, Katherine I, Jacobs, Michelle F, Mehra, Rohit, Begani, Priya, Davenport, Matthew S, Marentette, Lawrence J, Basura, Gregory J, Hughes, David T, Else, Tobias
Format Journal Article
LanguageEnglish
Published Washington, DC Oxford University Press 01.11.2019
Endocrine Society
Subjects
Case Report
Genetic aspects
Genetic variation
Health aspects
Thyroid cancer
United States
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Summary:Abstract 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>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.
ISSN:2472-1972
2472-1972
DOI:10.1210/js.2018-00353