title: Fine-needle aspiration molecular analysis for the diagnosis of papillary thyroid carcinoma through BRAF V600E mutation and RET/PTC rearrangement.
abstract: OBJECTIVE
  To evaluate BRAF(V600E) mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB's usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneous analysis of RET/PTC1 and RET/PTC3 rearrangements obtained from ex vivo thyroid nodules.
  
  
  METHODS
  Thyroid FNABs from 156 subjects with nodules and 49 corresponding surgical samples were examined for the presence of BRAF mutation by real-time allele-specific polymerase chain reaction, confirmed with the use of a laser pressure catapulting system. Samples were also examined for RET/PTC rearrangements. The results were compared with the cytological diagnosis and histopathology.
  
  
  RESULTS
  13/156 cytological examinations were diagnostic for PTC and 19/156 showed suspicious/indeterminate FNAB (12.2%). FNAB-BRAF(V600E) mutation was detected in 11/16 (69%) cases with histological confirmation of PTC. In our series, RET/PTC rearrangement was detected in only one case of PTC, whereas it was not present in any case of adenoma, goiter, or Hashimoto's thyroiditis. No PTC case was found positive at the same time for BRAF mutation and RET/PTC rearrangements.
  
  
  CONCLUSIONS
  BRAF(V600E) mutation detected on FNAB specimens, more than RET/PTC rearrangements, is highly specific for PTC and its routine research might well be an adjunctive and integrative diagnostic tool for the preoperative diagnostic iter.
authors.affiliation: Endocrinology Section, Department of Experimental Oncology and Clinical Applications, University of Palermo, Piazza del Cliniche 2, Palermo, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pizzolanti
authors.forename: Leonardo
authors.initials: L
authors.lastname: Russo
authors.forename: Pierina
authors.initials: P
authors.lastname: Richiusa
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bronte
authors.forename: Rosa Bianca
authors.initials: RB
authors.lastname: Nuara
authors.forename: Vito
authors.initials: V
authors.lastname: Rodolico
authors.forename: Marco C
authors.initials: MC
authors.lastname: Amato
authors.forename: Lucia
authors.initials: L
authors.lastname: Smeraldi
authors.forename: Pasqua S
authors.initials: PS
authors.lastname: Sisto
authors.forename: Miriam
authors.initials: M
authors.lastname: Nucera
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bommarito
authors.forename: Roberto
authors.initials: R
authors.lastname: Citarrella
authors.forename: Renato
authors.initials: R
authors.lastname: Lo Coco
authors.forename: Daniela
authors.initials: D
authors.lastname: Cabibi
authors.forename: Alessio
authors.initials: A
authors.lastname: Lo Coco
authors.forename: Francesco
authors.initials: F
authors.lastname: Frasca
authors.forename: Gaspare
authors.initials: G
authors.lastname: Gulotta
authors.forename: Mario A
authors.initials: MA
authors.lastname: Latteri
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Modica
authors.forename: Aldo
authors.initials: A
authors.lastname: Galluzzo
authors.forename: Carla
authors.initials: C
authors.lastname: Giordano
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D044963:Biopsy, Fine-Needle; D002291:Carcinoma, Papillary / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D015331:Cohort Studies; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
chemical_list: D051096:Proto-Oncogene Proteins c-ret; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf