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BRAF mutation analysis in thyroid nodules with indeterminate cytology: our experience on surgical management of patients with thyroid nodules from an area of borderline iodine deficiency

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Abstract

Purpose

Fine-needle aspiration (FNA) with cytologic evaluation is the most reliable tool for malignancy prediction in thyroid nodules, but cytologic diagnosis remains indeterminate for 12–18 % of nodules. BRAF V600E mutation has been reported to show a high specificity for malignant thyroid nodules and the use of this marker to refine indeterminate FNA cytology results may be a useful diagnostic adjunctive tool in the pre-operative evaluation of thyroid nodules. The aim of this study was to estimate the prevalence of BRAF exon 15 mutation (V600E) and its clinical value as a diagnostic tool in a series of thyroid nodules with indeterminate cytology from an area of borderline iodine deficiency.

Subjects and methods

One hundred and fifty-three thyroid samples obtained by FNA of thyroid nodules from 151 patients were subjected to the analysis of BRAF V600E mutation by direct sequencing. In the study 54 nodules with indeterminate cytology, 56 benign and 43 malignant thyroid nodules were included.

Results

V600E BRAF gene mutation was demonstrated in 19/43 malignant nodules, in 0/56 benign nodules and in only 1/54 indeterminate nodules that, after histology, turned out to be at a papillary thyroid carcinoma.

Conclusions

The application of BRAF exon 15 analysis showed limitations when applied to discriminate thyroid nodules with indeterminate cytology if wild-type BRAF is found, and there is no role for avoiding diagnostic thyroid surgery.

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Acknowledgments

We are grateful to Ministero dell’ Università e della Ricerca Scientifica (MURST) and Ministero della Sanità for funding.

Conflict of interest

The authors declare that they have no actual or potential conflict of interest.

Ethical standards

The study was approved by the local ethical committee and informed consent was obtained from all subjects.

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Authors and Affiliations

  1. Department of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa and University Hospital of Pisa, Via Paradisa 2, 56124, Pisa, Italy

    P. Agretti, F. Niccolai, T. Rago, G. De Marco, A. Molinaro, M. Scutari, C. Di Cosmo, M. Maccheroni, P. Vitti & M. Tonacchera

  2. Department of Oncology, Section of Cytopathology, University of Pisa and University Hospital of Pisa, Pisa, Italy

    G. Di Coscio

  3. Department of Medicine and Surgery, University of Salerno, Salerno, Italy

    M. Vitale

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  1. P. Agretti
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  2. F. Niccolai
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  3. T. Rago
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  4. G. De Marco
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  6. M. Scutari
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  9. M. Vitale
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  11. P. Vitti
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  12. M. Tonacchera
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Correspondence to M. Tonacchera.

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Agretti, P., Niccolai, F., Rago, T. et al. BRAF mutation analysis in thyroid nodules with indeterminate cytology: our experience on surgical management of patients with thyroid nodules from an area of borderline iodine deficiency. J Endocrinol Invest 37, 1009–1014 (2014). https://doi.org/10.1007/s40618-014-0166-6

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  • DOI: https://doi.org/10.1007/s40618-014-0166-6

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