Germline mutations and genotype–phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea. (15th November 2013)

• Record Type: Journal Article
• Authors: Kim, J.H.; Seong, M.‐W.; Lee, K.E.; Choi, H.J.; Ku, E.J.; Bae, J.H.; Park, S.S.; Choi, S.H.; Kim, S.W.; Shin, CS; Kim, S.Y.
• Is Part Of: Clinical genetics. Volume 86:Number 5(2014:Nov.)
• Page Start: 482
• Page End: 486
• Publication Date: 2013-11-15
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12304
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12304-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12304-para-0001">The aim of our study was to assess the frequency of germline mutations and develop the genetic testing strategy in patients with apparently sporadic pheochromocytoma/paraganglioma (PPGL) in Korea. We included 53 patients diagnosed with non‐syndromic PPGL without a family history of PPGLs in three referral centers from 2004 to 2011. Succinate dehydrogenase complex B (<italic>SDHB</italic>), <italic>SDHD</italic>, Von Hippel–Lindau (<italic>VHL</italic>), and rearranged during transfection (<italic>RET</italic>) genes were examined by direct sequencing and multiple ligation‐dependent probe amplification. The study patients were composed of 26 men and 27 women, and mean age was 50.1 ± 13.5 years. The frequency of germline mutations was 13.2% (7/53): <italic>RET</italic> (<italic>n</italic> = 2), <italic>VHL</italic> (<italic>n</italic> = 1), <italic>SDHB</italic> (<italic>n</italic> = 2), and <italic>SDHD</italic> (<italic>n</italic> = 2). Six of seven mutation carriers were diagnosed before the age of 50. One of two patients harboring an <italic>SDHB</italic> mutation had malignant PPGLs. One patient with multifocal head and neck paraganglioma (PGL) and pheochromocytoma (PHEO) carried a <italic>SDHD</italic> mutation. The carriers of germline mutations in patients with apparently sporadic PPGL were 13.2% in our study. We recommend genetic testing in patients below 50 years and <italic>SDHD</italic> genetic testing in patients with multifocal PPGLs. In malignant PPGLs, SDHB genetic testing may be performed.</p> </abstract>