title: Thyroid hormone receptor beta mutations in the 'hot-spot region' are rare events in thyroid carcinomas.
abstract: Thyroid cancer constitutes the most frequent endocrine neoplasia. Targeted expression of rearranged during transfection (RET)/papillary thyroid carcinoma (PTC) and V600E V-raf murine sarcoma viral oncogene homolog B1 (BRAF) to the thyroid glands of transgenic mice results in tumours similar to those of human PTC, providing evidence for the involvement of these oncogenes in PTC. Kato et al. developed a mouse model that mimics the full spectrum of the human follicular form of thyroid cancer (FTC). FTC rapidly develops in these mice through introduction of the thyroid hormone receptor beta (THRB)(PV) mutant on the background of the inactivated THRB wt locus. Our aim was to verify if, in the context of human follicular thyroid carcinogenesis, THRB acted as a tumour suppressor gene. We screened for mutations of the THRB gene in the hot-spot region, spanning exons 7-10, in 51 thyroid tumours and six thyroid cancer cell lines by PCR and direct sequencing. We did not find mutations in any of the tumours or cell lines analysed. Our findings suggest that, in contrast to the findings on the THRB-mutant transgenic mice, THRB gene mutations are not a relevant mechanism for human thyroid carcinogenesis.
authors.affiliation: IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Rua Roberto Frias s/n, 4200-065 Porto, Portugal. arocha@ipatimup.pt
authors.forename: Ana Sofia
authors.initials: AS
authors.lastname: Rocha
authors.forename: Ricardo
authors.initials: R
authors.lastname: Marques
authors.forename: Inês
authors.initials: I
authors.lastname: Bento
authors.forename: Ricardo
authors.initials: R
authors.lastname: Soares
authors.forename: João
authors.initials: J
authors.lastname: Magalhães
authors.forename: Inês Vieira
authors.initials: IV
authors.lastname: de Castro
authors.forename: Paula
authors.initials: P
authors.lastname: Soares
mesh_terms: D002291:Carcinoma, Papillary / Q000235:genetics*; D045744:Cell Line, Tumor; D004252:DNA Mutational Analysis; D004586:Electrophoresis; D005091:Exons; D006801:Humans; D016612:Paraffin Embedding; D020641:Polymorphism, Single Nucleotide; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D037042:Thyroid Hormone Receptors beta