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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Seven-year follow-up of a juvenile female with papillary thyroid carcinoma with poor outcome, BRAF mutation and loss of expression of iodine-metabolizing genes

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Author(s):
Gisele Oler [1] ; Claudia D. Nakabashi [2] ; Rosa Paula M. Biscolla [3] ; Janete M. Cerutti [4]
Total Authors: 4
Affiliation:
[1] Federal University of São Paulo. Division of Genetics and Division of Endocrinology. Genetic Bases of Thyroid Tumor Laboratory - Brasil
[2] Federal University of São Paulo. Division of Genetics and Division of Endocrinology. Genetic Bases of Thyroid Tumor Laboratory - Brasil
[3] Federal University of São Paulo. Division of Genetics and Division of Endocrinology. Genetic Bases of Thyroid Tumor Laboratory - Brasil
[4] Federal University of São Paulo. Division of Genetics and Division of Endocrinology. Genetic Bases of Thyroid Tumor Laboratory - Brasil
Total Affiliations: 4
Document type: Journal article
Source: Arquivos Brasileiros de Endocrinologia e Metabologia; v. 52, n. 8, p. 1313-1316, 2008-11-00.
Abstract

BACKGROUND: Recent studies reported that BRAF V600E mutation, the most prevalent genetic event found in papillary thyroid carcinoma, is an independent poor prognostic marker. Additionally, it correlates with a less differentiated tumor stage due to reduced expression of key genes involved in iodine metabolism. We previously described a patient with BRAF V600E mutation in primary tumor and a new mutation (V600E+K601del) in the matched-lymph node metastases. In the present study we report an unusual clinical behavior of PTC and correlate with BRAF mutational status and level of expression of TSHR and NIS. METHODS: Quantitative PCR (qPCR) was used to evaluate the NIS and TSHR level of expression in matched papillary thyroid carcinoma and adjacent normal tissue. RESULTS: In this study, we presented a seven-year follow up of a juvenile papillary thyroid carcinoma patient who had an aggressive tumor harboring BRAF mutation, and failed to conventional therapy. We found a markedly decrease of NIS and TSHR expression in primary PTC compared to adjacent normal thyroid tissue. CONCLUSION: Our findings suggest that BRAF mutational status and decreased NIS and TSHR expression in this patient may reduce radioiodine uptake and lead to a negative response to radioiodine therapy. (AU)

FAPESP's process: 05/60330-8 - Molecular markers in diagnosis and prognosis of patients with tumors of the human thyroid: transition from basic to clinical research
Grantee:Janete Maria Cerutti
Support Opportunities: Research Projects - Thematic Grants