Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl

• DOI: 10.1677/erc-10-0004
• Publication Date: 2010-04-24T01:12:12Z
• Authors: Maya B Lodish; Karen T Adams; Thanh T Huynh; Tamara Prodanov; Alex Ling; Clara Chen; Suzanne Shusterman; Camilo Jimenez; Maria Merino; Marybeth Hughes; Kendall W Cradic; Dragana Milosevic; Ravinder J Singh; Constantine A Str...; Karel Pacak
• Keywords: SDHB; SDHD; Metanephrines

Organ of Zuckerkandl paragangliomas (PGLs) are rare neuroendocrine tumors that derived from chromaffin cells located around the origin inferior mesenteric artery extending to level aortic bifurcation. Mutations in genes encoding succinate dehydrogenase subunits (SDH) B, C, and D (SDHx) have been associated with PGLs, but their contribution PGLs organ is not known. We aimed describe clinical presentation patients investigate prevalence SDHx mutations other genetic defects among them. The characteristics 14 PGL were analyzed retrospectively; DNA was tested for deletions. Eleven out (79%) found SDHB (9) or SDHD (2) genes; one patient Carney-Stratakis syndrome (CSS), his discovered during surgery gastrointestinal stromal tumor. Our results show prevalent pediatric adult Zuckerkandl. Patients should be screened CSS; addition, asymptomatic carriers an mutation relatives affected may benefit tumor screening early detection.