Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms
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 he...
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MDPI AG
2011-12-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | http://www.mdpi.com/1422-0067/13/1/221/ |
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| author | Ana Luiza Maia Carla V. Ferreira Mírian Romitti Lucieli Ceolin Débora R. Siqueira |
| author_facet | Ana Luiza Maia Carla V. Ferreira Mírian Romitti Lucieli Ceolin Débora R. Siqueira |
| author_sort | Ana Luiza Maia |
| collection | DOAJ |
| description | 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. |
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| institution | Directory Open Access Journal |
| issn | 1422-0067 |
| language | English |
| last_indexed | 2024-04-11T22:50:23Z |
| publishDate | 2011-12-01 |
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| spelling | doaj.art-fab49be24b2c44a4af8dba2248f9584e2022-12-22T03:58:36ZengMDPI AGInternational Journal of Molecular Sciences1422-00672011-12-0113122123910.3390/ijms13010221Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET PolymorphismsAna Luiza MaiaCarla V. FerreiraMírian RomittiLucieli CeolinDébora R. SiqueiraMedullary 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.http://www.mdpi.com/1422-0067/13/1/221/medullary thyroid carcinomaRET polymorphismsprognosis |
| spellingShingle | Ana Luiza Maia Carla V. Ferreira Mírian Romitti Lucieli Ceolin Débora R. Siqueira Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms International Journal of Molecular Sciences medullary thyroid carcinoma RET polymorphisms prognosis |
| title | Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms |
| title_full | Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms |
| title_fullStr | Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms |
| title_full_unstemmed | Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms |
| title_short | Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms |
| title_sort | molecular basis of medullary thyroid carcinoma the role of ret polymorphisms |
| topic | medullary thyroid carcinoma RET polymorphisms prognosis |
| url | http://www.mdpi.com/1422-0067/13/1/221/ |
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