title: Diagnostic utility of BRAFV600E mutation testing in thyroid nodules in elderly patients.
abstract: BACKGROUND
  Thyroid cancer is a rare disease characterized by the subtle appearance of a nodule. Fine-needle cytology (FNC) is the first diagnostic procedure used to distinguish a benign from a malignant nodule. However, FNC yields inconclusive results in about 20% of cases. BRAF(V600E) mutation is the most frequent genetic alteration in papillary thyroid carcinoma (PTC); its high prevalence makes this oncogene a useful marker to refine inconclusive FNC results. However, the prevalence of the BRAF(V600E) mutation depends on detection methods, geographical factors, and age. The aim of this study is to determine the prevalence of BRAF(V600E) mutation and its utility as a diagnostic tool in elderly subjects.
  
  
  METHODS
  FNC from 92 PTC patients were subjected to the analysis of BRAF mutation by pyrosequencing and direct sequencing; age-dependent prevalence was also determined.
  
  
  RESULTS
  BRAF mutation analysis was successful in all FNC specimens. BRAF(V600E) was documented in 62 (67.4%) and in 58 (63.0%) PTCs by pyrosequencing and direct sequencing, respectively. BRAF(V600E) prevalence did not correlate with patient's age at diagnosis. Twenty out of 32 PTCs (62.5%) were correctly diagnosed by BRAF mutation analysis in inconclusive FNC results.
  
  
  CONCLUSIONS
  Detection of BRAF(V600E) in cytology specimens by pyrosequencing is a useful diagnostic adjunctive tool in the evaluation of thyroid nodules also in elderly subjects.
authors.forename: Anna
authors.initials: A
authors.lastname: Guerra
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Di Crescenzo
authors.forename: Alfredo
authors.initials: A
authors.lastname: Garzi
authors.forename: Mariapia
authors.initials: M
authors.lastname: Cinelli
authors.forename: Chiara
authors.initials: C
authors.lastname: Carlomagno
authors.forename: Stefano
authors.initials: S
authors.lastname: Pepe
authors.forename: Pio
authors.initials: P
authors.lastname: Zeppa
authors.forename: Massimo
authors.initials: M
authors.lastname: Tonacchera
authors.forename: Mario
authors.initials: M
authors.lastname: Vitale
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002277:Carcinoma / Q000175:diagnosis* / Q000235:genetics*; D002291:Carcinoma, Papillary; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D016606:Thyroid Nodule / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf