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

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. Stratakis, Karel Pacak

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Abstract

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 in the 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 of patients with PGLs of the organ of Zuckerkandl and investigate the prevalence of SDHx 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 with PGLs 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.

Original languageEnglish (US)
Pages (from-to)581-588
Number of pages8
JournalEndocrine-Related Cancer
Volume17
Issue number3
DOIs
StatePublished - Sep 1 2010

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ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Oncology
  • Endocrinology
  • Cancer Research

Cite this

Lodish, M. B., Adams, K. T., Huynh, T. T., Prodanov, T., Ling, A., Chen, C., Shusterman, S., Jimenez, C., Merino, M., Hughes, M., Cradic, K. W., Milosevic, D., Singh, R. J., Stratakis, C. A., & Pacak, K. (2010). Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl. Endocrine-Related Cancer, 17(3), 581-588. https://doi.org/10.1677/ERC-10-0004