Abstract
Medullary thyroid carcinoma (MTC) is a rare calcitonin producing neuroendocrine tumour that originates from the parafollicular C-cells of the thyroid gland. The RET proto-oncogene encodes the RET receptor tyrosine kinase, with consequently essential roles in cell survival, differentiation and proliferation. Somatic or germline mutations of the RET gene play an important role in this neoplasm in development of sporadic and familial forms, respectively. Genetic diagnosis has an important role in differentiating sporadic from familiar MTC. Furthermore, depending on the location of the mutation, patients can be classified into risk classes. Therefore, genetic screening of the RET gene plays a critical role not only in diagnosis but also in assessing the prognosis and course of MTC.
Keywords: diagnostic genetic markers, RET proto-oncogene, Medullary Thyroid Carcinoma, prognostic genetic markers, Genetic Alterations, GERMLINE MUTATIONS, SOMATIC MUTATIONS, RAS MUTATIONS, SNPs, heredity
Current Genomics
Title: Genetic Alterations in Medullary Thyroid Cancer: Diagnostic and Prognostic Markers
Volume: 12 Issue: 8
Author(s): A. Taccaliti, F. Silvetti, G. Palmonella and M. Boscaro
Affiliation:
Keywords: diagnostic genetic markers, RET proto-oncogene, Medullary Thyroid Carcinoma, prognostic genetic markers, Genetic Alterations, GERMLINE MUTATIONS, SOMATIC MUTATIONS, RAS MUTATIONS, SNPs, heredity
Abstract: Medullary thyroid carcinoma (MTC) is a rare calcitonin producing neuroendocrine tumour that originates from the parafollicular C-cells of the thyroid gland. The RET proto-oncogene encodes the RET receptor tyrosine kinase, with consequently essential roles in cell survival, differentiation and proliferation. Somatic or germline mutations of the RET gene play an important role in this neoplasm in development of sporadic and familial forms, respectively. Genetic diagnosis has an important role in differentiating sporadic from familiar MTC. Furthermore, depending on the location of the mutation, patients can be classified into risk classes. Therefore, genetic screening of the RET gene plays a critical role not only in diagnosis but also in assessing the prognosis and course of MTC.
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Cite this article as:
Taccaliti A., Silvetti F., Palmonella G. and Boscaro M., Genetic Alterations in Medullary Thyroid Cancer: Diagnostic and Prognostic Markers, Current Genomics 2011; 12 (8) . https://dx.doi.org/10.2174/138920211798120835
DOI https://dx.doi.org/10.2174/138920211798120835 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
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