title: BRAF mutation analysis of fine-needle aspiration biopsies of papillary thyroid carcinoma: impact on diagnosis and prognosis.
abstract: OBJECTIVE
  The BRAF V600E mutation has been associated with aggressive disease in papillary thyroid carcinoma (PTC). Molecular testing has been proposed as a useful adjunct to cytology in the diagnosis of malignancy and for tailoring clinical management. The aims of our study were to evaluate the BRAF mutational status using archived fine-needle aspiration biopsy (FNAB) material from patients with long-term follow-up and to correlate it with the original cytology diagnosis, clinicopathological stage at surgery, and prognosis.
  
  
  METHODS
  FNAB material from 52 cases of PTC, with a mean follow-up of 8.4 years, was used in this study. DNA was extracted from archival cytology slides. Mutation analysis was performed by standard sequencing and locked nucleic acid-PCR/sequencing.
  
  
  RESULTS
  The BRAF V600E mutation was present in 46% of cases, but it was absent in all FNABs diagnosed originally as atypical and in 14 of 17 suspicious cases. Recurrence was significantly more frequent (p = 0.006) in cases with BRAF mutations and 54% of these cases presented with stage 2 or higher.
  
  
  CONCLUSIONS
  The BRAF V600E mutation is associated with a higher pathological stage at surgery and a higher rate of recurrence. BRAF mutation analysis did not provide a significant increase in the accuracy of thyroid FNABs diagnosed as suspicious or atypical in our institution.
authors.affiliation: Memorial Sloan-Kettering Cancer Center, New York, N.Y., USA.
authors.forename: Agnes
authors.initials: A
authors.lastname: Colanta
authors.forename: Oscar
authors.initials: O
authors.lastname: Lin
authors.forename: Laura
authors.initials: L
authors.lastname: Tafe
authors.forename: Ronald
authors.initials: R
authors.lastname: Ghossein
authors.forename: Khedoudja
authors.initials: K
authors.lastname: Nafa
authors.forename: Talia
authors.initials: T
authors.lastname: Mitchell
authors.forename: Marc
authors.initials: M
authors.lastname: Ladanyi
authors.forename: Maria
authors.initials: M
authors.lastname: Arcila
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044963:Biopsy, Fine-Needle; D002277:Carcinoma / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002291:Carcinoma, Papillary; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D011237:Predictive Value of Tests; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012008:Recurrence; D012189:Retrospective Studies; D012306:Risk; D000077273:Thyroid Cancer, Papillary; D013961:Thyroid Gland / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf