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

Published online by Cambridge University Press:  11 February 2008

R Garrel ,
P Raynaud ,
I Raingeard ,
C Muyshondt ,
Q Gardiner ,
B Guerrier ,
P Pujol  and
I Coupier
R Garrel*
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, Montpellier Teaching Hospitals, France
P Raynaud
Affiliation:
Department of Pathology, Montpellier Teaching Hospitals, France
I Raingeard
Affiliation:
Department of Endocrinology, Montpellier Teaching Hospitals, France
C Muyshondt
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, Montpellier Teaching Hospitals, France
Q Gardiner
Affiliation:
Department of Genetics, Montpellier Teaching Hospitals, France
B Guerrier
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, Montpellier Teaching Hospitals, France
P Pujol
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, Montpellier Teaching Hospitals, France
I Coupier
Affiliation:
Department of Genetics, Val d'Aurelle Hospital, France Department of Otolaryngology, Ninewells Hospital and Medical School, Dundee, Scotland, UK
*
Address for correspondence: Dr Renaud Garrel MD, phD, ENT Head & Neck surgery department, Pole of Neuro Sciences, Head & Neck, Gui de Chaulial Hospital, Montpellier's Teaching Hospitals, 80 rue Fliche, 34295 Montpellier Cedex 4 (France). Fax: +33 (0) 4 67 33 67 28, Tel: 33 (0) 4 67 33 68 03, E-mail: [email protected]
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Abstract

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.

Keywords

ParagangliomaLaryngeal NeoplasmsSDHC ProteinHumanGerm Line Mutation
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 123 , Issue 1 , January 2009 , pp. 141 - 144
Copyright
Copyright © JLO (1984) Limited 2008

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References

1 Terracol, J, Guerrier, Y. Tumoral syndrome of glomus jugulare [in French]. Presse Med 1952;60:715–16Google Scholar
2 Guerrier, B, Makeieff, M, Louche, C, Mouketou, JB, Crampette, L. Cervical paraganglioma. Results for a series of 33 patients [in French]. Ann Otolaryngol Chir Cervicofac 1994;111:427–34Google ScholarPubMed
3 Ferlito, A, Devaney, KO, Rinaldo, A. Neuroendocrine neoplasms of the larynx: advances in identification, understanding, and management. Oral Oncol 2006;42:770–88CrossRefGoogle ScholarPubMed
4 Baysal, BE, Ferrell, RE, Willett-Brozick, JE, Lawrence, EC, Myssiorek, D, Bosch, A et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000;287:848–51CrossRefGoogle ScholarPubMed
5 Rieu, M, Lame, MC, Richard, A, Lissak, B, Sambort, B, Vuong-Ngoc, P et al. Prevalence of sporadic medullary thyroid carcinoma: the importance of routine measurement of serum calcitonin in the diagnostic evaluation of thyroid nodules. Clin Endocrinol (Oxf) 1995;42:453–60CrossRefGoogle ScholarPubMed
6 Fuller, RH. Tumor of the glomus jugularis; report of a case. U S Nav Med Bull 1949;49:1141–4Google ScholarPubMed
7 Hensen, EF, Jordanova, ES, van Minderhout, IJ, Hogendoorn, PC, Taschner, PE, van der Mey, AG et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 2004;23:4076–83CrossRefGoogle ScholarPubMed
8 Neumann, HP, Pawlu, C, Peczkowska, M, Bausch, B, McWhinney, SR, Muresan, M et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004;292:943–51CrossRefGoogle ScholarPubMed
9 Schiavi, F, Boedeker, CC, Bausch, B, Peczkowska, M, Gomez, CF, Strassburg, T et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 2005;294:2057–63CrossRefGoogle ScholarPubMed
10 Benn, DE, Gimenez-Roqueplo, AP, Reilly, JR, Bertherat, J, Burgess, J, Byth, K et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2006;91:827–36CrossRefGoogle ScholarPubMed
11 Bayley, JP, van Minderhout, I, Weiss, MM, Jansen, JC, Oomen, PH, Menko, FH et al. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet 2006;7:1CrossRefGoogle ScholarPubMed