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


METHODS
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.


CONCLUSIONS
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.
Garrel
R
R
Department of Otolaryngology, Montpellier Teaching Hospitals, Montpellier Cedex 4, France. r-garrel@chu-montpellier.fr
Raynaud
P
P
Raingeard
I
I
Muyshondt
C
C
Gardiner
Q
Q
Guerrier
B
B
Pujol
P
P
Coupier
I
I
D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007822:Laryngeal Neoplasms / Q000201:enzymology / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D010235:Paraganglioma / Q000201:enzymology / Q000235:genetics*; D035583:Rare Diseases / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000235:genetics*
D008565:Membrane Proteins; C108096:SDHC protein, human; D013385:Succinate Dehydrogenase