This Article Full Text Full Text (PDF) All Versions of this Article: 90/4/2127    most recent Author Manuscript (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Cascon, A. Articles by Robledo, M. Search for Related Content PubMed PubMed Citation Articles by Cascon, A. Articles by Robledo, M. Pubmed/NCBI databases Gene GEO Profiles HomoloGene UniGene Substance via MeSH Medline Plus Health Information Thyroid Cancer Related Collections Endocrine Oncology Thyroid

Succinate Dehydrogenase D Variants Do Not Constitute a Risk Factor for Developing C Cell Hyperplasia or Sporadic Medullary Thyroid Carcinoma

Hereditary Endocrine Cancer Group (A.Ca., S.R.-L., C.M.-C., R.L., R.G., M.R.), Centro Nacional de Investigaciones Oncológicas, Madrid, Spain; Cancer Research United Kingdom (A.Ce., F.L., B.A.J.P.), Department of Oncology, University of Cambridge, Cambridge, United Kingdom; Cancer Epidemiology Service (M.P.), National Center for Epidemiology, Carlos III Institute of Health, Madrid, Spain; Department of Human Genetics (R.L.M., J.B.), Centro Nacional de Investigaciones Oncológicas, Madrid, Spain; Endocrinology Service (O.G.-A.), Hospital Ramon y Cajal, E-28029 Madrid, Spain; and Endocrinology Service (T.L.-M.), Clinica Universitaria Puerta de Hierro, Madrid, Spain

Address all correspondence and requests for reprints to: Mercedes Robledo, Hereditary Endocrine Cancer Group, Department of Human Genetics, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, E-28029 Madrid, Spain. E-mail: mrobledo{at}cnio.es.

Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.

This article has been cited by other articles:

				E. Saggiorato, I. Rapa, F. Garino, G. Bussolati, F. Orlandi, M. Papotti, and M. Volante Absence of RET Gene Point Mutations in Sporadic Thyroid C-Cell Hyperplasia J. Mol. Diagn., April 1, 2007; 9(2): 214 - 219. [Abstract] [Full Text] [PDF]

				M. C. Zatelli, D. Piccin, F. Tagliati, A. Bottoni, A. Luchin, C. Vignali, A. Margutti, M. Bondanelli, G. C. Pansini, M. R. Pelizzo, et al. Selective Activation of Somatostatin Receptor Subtypes Differentially Modulates Secretion and Viability in Human Medullary Thyroid Carcinoma Primary Cultures: Potential Clinical Perspectives J. Clin. Endocrinol. Metab., June 1, 2006; 91(6): 2218 - 2224. [Abstract] [Full Text] [PDF]