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Related Experiment Videos

Cervical paragangliomas: is SDH genetic analysis systematically required?

Nicolas Fakhry1, Patricia Niccoli-Sire, Anne Barlier-Seti

  • 1Service ORL et Chirurgie Cervico-Faciale, Centre Hospitalier Universitaire la Timone, 264, rue Saint Pierre, 13385 Marseille Cedex 05, France. nfakhry@yahoo.fr

European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
|November 8, 2007
PubMed
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Germline mutations in succinate dehydrogenase (SDH) genes are prevalent in cervical paragangliomas, particularly in younger patients with a family history or multifocal tumors. Genetic testing is recommended for all cases, including apparently sporadic ones.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Cervical paragangliomas are rare neuroendocrine tumors.
  • Succinate dehydrogenase (SDH) gene mutations are implicated in familial paraganglioma syndromes.

Purpose of the Study:

  • To determine the prevalence of SDH B, C, and D germline mutations in cervical paragangliomas.
  • To characterize patients with familial forms of the disease.

Main Methods:

  • Genetic analysis of SDH B, C, and D genes in 23 surgically treated cervical paraganglioma patients.
  • Comparison of clinical characteristics between patients with and without SDH mutations.

Main Results:

  • SDH mutations were found in 35% of patients (8/23), predominantly in SDHD (6 cases).

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  • Patients with mutations had a significantly lower mean age at onset (34 vs. 51.5 years).
  • Mutations were associated with a positive family history (50%) and multifocal disease (87.5%).
  • Approximately 6% of apparently sporadic tumors harbored SDH mutations.

    • Conclusions:

    • Cervical paragangliomas show a high prevalence of SDH germline mutations.
    • Early onset, family history, and multifocal tumors are key indicators for SDH mutations.
    • Genetic testing for SDH mutations should be considered for all cervical paraganglioma patients, even those with sporadic presentations.