scholarly journals Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

2019 ◽  
Vol 90 (4) ◽  
pp. 499-505 ◽  
Author(s):  
Mei Yin Wong ◽  
Katrina A. Andrews ◽  
Benjamin G. Challis ◽  
Soo-Mi Park ◽  
Carlo L. Acerini ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Mutation Carriers ◽  
Dehydrogenase Gene

Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort

2020 ◽  
Vol 92 (6) ◽  
pp. 545-553 ◽  
Author(s):  
Raquel G. Martins ◽  
Nuno Cunha ◽  
Helder Simões ◽  
Maria João Matos ◽  
João Silva ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Mutation Carriers ◽  
Dehydrogenase Gene

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

2008 ◽  
Vol 123 (1) ◽  
pp. 141-144 ◽  
Author(s):  
R Garrel ◽  
P Raynaud ◽  
I Raingeard ◽  
C Muyshondt ◽  
Q Gardiner ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
World Literature ◽  
Neuroendocrine Tumour ◽  
Genetic Mutations ◽  
Dehydrogenase Gene ◽  
The World ◽  
Thyroid Papillary ◽  
History Of ◽  
Succinate Dehydrogenase Mutation

AbstractObjective: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.

scholarly journals Paraganglioma after Maternal Transmission of a Succinate Dehydrogenase Gene Mutation

2008 ◽  
Vol 93 (5) ◽  
pp. 1609-1615 ◽  
Author(s):  
Pascal Pigny ◽  
Audrey Vincent ◽  
Catherine Cardot Bauters ◽  
Monelle Bertrand ◽  
Vincent Thomas de Montpreville ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Maternal Transmission ◽  
Dehydrogenase Gene

Anetoderma Associated With a Succinate Dehydrogenase Gene Mutation

2019 ◽  
Vol 155 (11) ◽  
pp. 1317 ◽  
Author(s):  
Adam K. Brys ◽  
Larissa G. Rodriguez-Homs ◽  
Samantha Wennerberg ◽  
Russell P. Hall ◽  
Matilda W. Nicholas
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Dehydrogenase Gene
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