Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
  1. Home
  2. Search

Refine search

Refine search

Access:
Content type:
Publication date:
Apply   From and To filters
Subject: Show more
Journals Show more
Publishers: Show more
Societies Show more
Series: Show more
Collections: Show more

Actions for selected content:

Select all | Deselect all
  • View selected items
  • Export citations
  • Download PDF (zip)
  • Save to Kindle
  • Save to Dropbox
  • Save to Google Drive

Save Search

You can save your searches here and later view and run them again in "My saved searches".

Please provide a title, maximum of 40 characters.
Cancel
×

1 results

  • An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma

  • R Garrel, P Raynaud, I Raingeard, C Muyshondt, Q Gardiner, B Guerrier, P Pujol, I Coupier
  • Journal:
    The Journal of Laryngology & Otology / Volume 123 / Issue 1 / January 2009
    Published online by Cambridge University Press:
    11 February 2008, pp. 141-144
    Print publication:
    January 2009
  • Objective:

    To report a rare case of a laryngeal paraganglioma related to succinate dehydrogenase gene mutation C.

    Method:

    A case report and a review of the world literature concerning succinate dehydrogenase mutations and laryngeal paraganglioma are presented.

    Results:

    We identified a laryngeal paraganglioma in a 38-year-old woman, related to a very rare, deleterious in exon 4 of the succinate dehydrogenase mutation C. This mutation was a non-sense mutation: c.183G >A leading to p.Trp61X. No other neuroendocrine tumour was identified in this case, but a thyroid papillary carcinoma was concomitantly discovered and cured.

    Conclusion:

    To our knowledge, this is the first report in the world literature of laryngeal paraganglioma related to a succinate dehydrogenase mutation C. The case presented underlines the fact that every patient with paraganglioma should be tested for succinate dehydrogenase genetic mutations, even if a family history of paraganglioma is absent, in order to enable appropriate clinical management and to improve our knowledge of familial paraganglioma.