title: Is there a role for inherited TRβ mutation in human carcinogenesis? [corrected].
abstract: 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) β gene, and its clinical presentation is quite variable. Goiter is reported to be the most common finding. A close association of TRβ mutations with human cancers has become apparent, but the role of TRβ 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 TRβ 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.
authors.affiliation: Thyroid Section, Endocrine Division, Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Letícia Schwerz
authors.initials: LS
authors.lastname: Weinert
authors.forename: Lucieli
authors.initials: L
authors.lastname: Ceolin
authors.forename: Mírian
authors.initials: M
authors.lastname: Romitti
authors.forename: Eduardo Guimarães
authors.initials: EG
authors.lastname: Camargo
authors.forename: Ana Luiza
authors.initials: AL
authors.lastname: Maia
mesh_terms: D000328:Adult; D002291:Carcinoma, Papillary / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood
chemical_list: D037042:Thyroid Hormone Receptors beta; D013972:Thyrotropin