Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma. Issue 12 (18th June 2014)

• Record Type: Journal Article
• Authors: Kim, Eun Sook; Kim, Su Yeon; Mo, Eun Young; Jang, Dong Kyu; Moon, Sung Dae; Han, Je Ho; Andersen, Peter
• Is Part Of: Head & neck. Volume 36:Issue 12(2014:Dec.)
• Page Start: E131
• Page End: E135
• Publication Date: 2014-06-18
• Subjects: Head -- Diseases -- Periodicals; Neck -- Diseases -- Periodicals; Head -- Periodicals; Neck -- Periodicals; Face -- Periodicals; 617.51059
• DOI: 10.1002/hed.23670
• Languages: English
• ISSNs: 1043-3074

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="hed23670-sec-0001" sec-type="section"> <title>Background</title> <p>Recent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (<italic>SDH</italic>) gene.</p> </sec> <sec id="hed23670-sec-0002" sec-type="section"> <title>Methods</title> <p>DNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 × 1 Genetic Analyzer.</p> </sec> <sec id="hed23670-sec-0003" sec-type="section"> <title>Results</title> <p>A 30‐year‐old Korean woman underwent resection of a carotid PGL. Fourteen years later, she was readmitted for a cervical mass. <sup>18</sup>F‐fluorodeoxyglucose (FDG)‐positron emission tomography (PET)/CT revealed a hot spot in the adrenal gland, besides the carotid mass. Surgical pathology confirmed recurrence of the carotid PGL and a concomitant pheochromocytoma. Genetic analysis revealed <italic>SDHD</italic> c.119del T (p.I40TfsX46) mutation. One daughter has been identified as a carrier.</p> </sec> <sec id="hed23670-sec-0004" sec-type="section"> <title>Conclusion</title> <p>We found a novel <italic>SDHD</italic> mutation from a Korean family that shows similar clinical features to those in other <italic>SDHD</italic> mutations, mostly from Western countries. Further studies are needed to determine whether similar genotype‐phenotype correlations exist in the Asian patients with familial PGLs. © 2014 Wiley Periodicals, Inc. <italic>Head Neck</italic> 36: E131–E135, 2014</p> </sec> </abstract>