6392

SDHD

CBT1|PGL|PGL1|SDH4;succinate dehydrogenase complex, subunit D, integral membrane protein;SDHD;succinate dehydrogenase complex, subunit D, integral membrane protein

CII-4|QPs3|cybS|succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial|succinate dehydrogenase complex subunit D|succinate dehydrogenase ubiquinone cytochrome B small subunit|succinate-ubiquinone oxidoreductase cytochrome b small s

11q23

protein-coding

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