title: 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.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Department of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa and University Hospital of Pisa, Via Paradisa 2, 56124, Pisa, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Agretti
authors.forename: F
authors.initials: F
authors.lastname: Niccolai
authors.forename: T
authors.initials: T
authors.lastname: Rago
authors.forename: G
authors.initials: G
authors.lastname: De Marco
authors.forename: A
authors.initials: A
authors.lastname: Molinaro
authors.forename: M
authors.initials: M
authors.lastname: Scutari
authors.forename: C
authors.initials: C
authors.lastname: Di Cosmo
authors.forename: G
authors.initials: G
authors.lastname: Di Coscio
authors.forename: M
authors.initials: M
authors.lastname: Vitale
authors.forename: M
authors.initials: M
authors.lastname: Maccheroni
authors.forename: P
authors.initials: P
authors.lastname: Vitti
authors.forename: M
authors.initials: M
authors.lastname: Tonacchera
mesh_terms: D000328:Adult; D044963:Biopsy, Fine-Needle; D005091:Exons; D005260:Female; D006801:Humans; D007455:Iodine / Q000172:deficiency*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D016606:Thyroid Nodule / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D007455:Iodine; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf