Fine-needle aspiration molecular analysis for the diagnosis of papillary thyroid carcinoma through BRAF V600E mutation and RET/PTC rearrangement.
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.
Pizzolanti
Giuseppe
G
Endocrinology Section, Department of Experimental Oncology and Clinical Applications, University of Palermo, Piazza del Cliniche 2, Palermo, Italy.
Russo
Leonardo
L
Richiusa
Pierina
P
Bronte
Vincenzo
V
Nuara
Rosa Bianca
RB
Rodolico
Vito
V
Amato
Marco C
MC
Smeraldi
Lucia
L
Sisto
Pasqua S
PS
Nucera
Miriam
M
Bommarito
Alessandra
A
Citarrella
Roberto
R
Lo Coco
Renato
R
Cabibi
Daniela
D
Lo Coco
Alessio
A
Frasca
Francesco
F
Gulotta
Gaspare
G
Latteri
Mario A
MA
Modica
Giuseppe
G
Galluzzo
Aldo
A
Giordano
Carla
C
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
D051096:Proto-Oncogene Proteins c-ret; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf