Skull Base 2009; 19(1): 017-025
DOI: 10.1055/s-0028-1103123
© Thieme Medical Publishers

Clinical Features of Paraganglioma Syndromes

Carsten Christof Boedeker1 , Hartmut P.H Neumann2 , Christian Offergeld1 , Wolfgang Maier1 , Maurizio Falcioni4 , Ansgar Berlis3 , Joerg Schipper5
  • 1Department of Otorhinolaryngology–Head and Neck Surgery, University of Freiburg, Freiburg, Germany
  • 2Department of Nephrology, University of Freiburg, Freiburg, Germany
  • 3Department of Neuroradiology, University of Freiburg, Freiburg, Germany
  • 4Gruppo Otologico Piacenza, Roma, Italy
  • 5Department of Otorhinolaryngology–Head and Neck Surgery, University of Düsseldorf, Düsseldorf, Germany
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Publication History

Publication Date:
12 January 2009 (online)

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ABSTRACT

Head and neck paragangliomas (HNPs) and pheochromocytomas are rare tumors. Sporadic and hereditary forms are recognized. Four different paraganglioma syndromes (PGLs 1–4) have been described: PGL 1 is associated with mutations of the succinate dehydrogenase (SDH) subunit D (SDHD) gene; PGL 3 is caused by SDHC gene mutations; PGL 4 is caused by SDHB gene mutations; the susceptibility gene for PGL 2 is unknown. The objective of this study is to review distinct clinical features of the different PGLs. An international registry for HNPs was founded in Freiburg, Germany, in 2000. The data presented in this article have been acquired from registered HNP patients who have been screened for mutations of the genes SDHB, SDHC, and SDHD. Approximately 30% of apparent sporadic HNPs are caused by a germline mutation in one of these genes. Patients with PGL 1 or 4 have a very high lifetime risk of developing HNPs as well as thoracic and abdominal pheochromocytomas. Compared with sporadic HNPs, tumors developing in SDHB, SDHC, and SDHD mutation carriers arise at a significantly younger age. The SDHB mutations are associated with a high percentage of malignant paraganglionic tumors. We recommend molecular genetic screening of all HNP patients for SDHB, SDHC, and SDHD gene mutations. Mutation carriers must be screened for paraganglial tumors in the head, neck, thorax, and abdomen. Appropriately timed surgical intervention will minimize disease-specific morbidity and mortality. Lifelong follow-up is mandatory.