[BRAF V600E mutation in papillary thyroid carcinoma: prevalence and detection in fine needle aspiration specimens].
BRAF V600E mutation in papillary thyroid carcinoma (PTC): prevalence and detection in fine needle aspiration (FNA) specimens.


OBJECTIVE
The activating mutation of the BRAF gene, T1799A, is the most common and specific genetic alteration in PTC. In the present study, our aims were to confirm these data and investigate the feasibility of BRAF mutation detection in FNA specimens.


METHODS
In a retrospective study, we examined paraffin-embedded surgical samples of 57 PTC and 51 non-PTC thyroid tumors for the presence of BRAF mutation by dideoxy sequencing. We analyzed thyroid aspirates (drop and washed-out solution) and smears from 31 patients who underwent thyroidectomy, before intraoperative frozen sections, and 25 archival thyroid FNA smears.


RESULTS
The BRAF mutation was present in 58 % of PTC. Among non-PTC thyroid tumors, only one medullary thyroid carcinoma contained the BRAF mutation. BRAF mutation was correctly detected from the FNA-derived materials. Considering the search of BRAF mutation in preoperative FNA smears, the diagnosis of PTC would have been affirmed in 31 % (4/13) of indeterminate and suspicious FNA.


CONCLUSIONS
BRAF mutation detection in FNA specimens is feasible and could be used as an adjunct tool for preoperative diagnosis of PTC classified as indeterminate and suspicious with conventional cytology (categories 3, 4 and 5 according to NCI/Bethesda 2008 terminology).
Dujardin
Fanny
F
Service d'anatomie et cytologie pathologiques, hôpital Trousseau, CHRU de Tours, 37044 Tours cedex 09, France.
Pagès
Jean-Christophe
JC
Collin
Christine
C
de Calan
Loïc
L
Lecomte
Pierre
P
Guyétant
Serge
S
D001706:Biopsy; D044963:Biopsy, Fine-Needle / Q000379:methods; D002291:Carcinoma, Papillary / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005602:France / Q000453:epidemiology; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013965:Thyroidectomy
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf