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Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms
Thyroid Section, Endocrine Division, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2350, 90035–003, Porto Alegre, RS, Brazil
* Author to whom correspondence should be addressed.
Received: 10 October 2011; in revised form: 29 November 2011 / Accepted: 20 December 2011 / Published: 27 December 2011
Abstract: Medullary thyroid carcinoma is a rare malignant tumor originating in parafollicular C cells. It accounts for 5 to 8% of all thyroid cancers. MTC develops in either sporadic (75%) or hereditary form (25%). Genetic and molecular studies have demonstrated the involvement of the RET proto-oncogene in hereditary MTC and, less often, in its sporadic form. Although a strong genotype-phenotype correlation has been described, wide clinical heterogeneity is observed among families with the same RET mutation or even in carriers of the same kindred. In recent years, several single nucleotide polymorphisms of the RET gene have been described in the general population as well as in patients with MTC. Some studies have reported associations between the presence of polymorphisms and development or progression of MTC. Nonetheless, other studies failed to demonstrate any effect of the RET variants. Differences in the genetic background of distinct populations or methodological approaches have been suggested as potential reasons for the conflicting results. Here, we review current knowledge concerning the molecular pathogenesis of sporadic and hereditary MTC. In particular, we analyze the role of RET polymorphisms in the clinical presentation and prognosis of MTC based on the current literature.
Keywords: medullary thyroid carcinoma; RET polymorphisms; prognosis
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Ceolin, L.; Siqueira, D.R.; Romitti, M.; Ferreira, C.V.; Maia, A.L. Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms. Int. J. Mol. Sci. 2012, 13, 221-239.
Ceolin L, Siqueira DR, Romitti M, Ferreira CV, Maia AL. Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms. International Journal of Molecular Sciences. 2012; 13(1):221-239.
Ceolin, Lucieli; Siqueira, Débora R.; Romitti, Mírian; Ferreira, Carla V.; Maia, Ana Luiza. 2012. "Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms." Int. J. Mol. Sci. 13, no. 1: 221-239.