%0 Journal Article
%T Is there a role for inherited TR ¦Âmutation in human carcinogenesis?
%A Weinert
%A Let¨ªcia Schwerz
%A Ceolin
%A Lucieli
%A Romitti
%A M¨ªrian
%A Camargo
%A Eduardo Guimar£¿es
%A Maia
%A Ana Luiza
%J Arquivos Brasileiros de Endocrinologia & Metabologia
%D 2012
%I Sociedade Brasileira de Endocrinologia e Metabologia
%R 10.1590/S0004-27302012000100010
%X resistance to thyroid hormone (rth) is a rare autosomal dominant inherited disorder characterized by end-organ reduced sensitivity to thyroid hormone. this syndrome is caused by mutations of the thyroid hormone receptor (tr) ¦Â gene, and its clinical presentation is quite variable. goiter is reported to be the most common finding. a close association of tr¦Â mutations with human cancers has become apparent, but the role of tr¦Â mutants in the carcinogenesis is still undefined. moreover, higher tsh levels, described in rth syndrome, are correlated with increased risk of thyroid malignancy, whereas tsh receptor stimulation is likely to be involved in tumor progression. we report here an illustrative case of a 29 year-old patient with rth caused by a mutation in exon 9 (a317t) of tr¦Â gene, who presented multicentric papillary thyroid cancer. we review the literature on this uncommon feature, and discuss the potential role of this mutation on human tumorigenesis, as well as the challenges in patient follow-up.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0004-27302012000100010&lng=en&nrm=iso&tlng=en