[Medullary thyroid carcinoma: clinical and oncological features and treatment].
Medullary carcinoma of the thyroid (MTC) may be sporadic or may occur on a hereditary basis. Hereditary MTC can occur either alone -- familial MTC (FMTC) -- or as the thyroid manifestation of multiple endocrine neoplasia type 2 (MEN 2) syndromes (MEN 2A and MEN 2B) or other forms. Germ-line mutations in RET cause MEN 2. Genetic testing, now available, forms the basis for MTC screening procedures. In the past few years, several genotype-phenotype correlations have focused on the relationship between specific mutations and different MEN 2 syndrome variants. Differences in dimerization induction intensities are a reasonable explanation for the phenotypes resulting from mutations of the different cysteines. Here we described the molecular mechanisms, diagnose and treatment as well as our experience on the management of this rare form of thyroid cancer.
Puñales
Marcia K
MK
Serviço de Endocrinologia, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS.
Rocha
Andreia P
AP
Gross
Jorge Luiz
JL
Maia
Ana Luiza
AL
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics*