Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma.
Point mutations in BRAF are genetic hallmarks of papillary thyroid carcinoma (PTC). In this retrospective study, we examined thyroid aspirates and corresponding paraffin-embedded surgical samples for the presence of BRAF mutations. Altogether, we examined 96 cases, including 69 PTCs, 19 follicular adenomas, and eight nontoxic nodular goiters for BRAF; 60 of these samples were also examined for RET/PTC rearrangements. The results were correlated with the cytological diagnosis and the final histopathology. The BRAF mutation (V599E) was detected in 38% of the samples that were PTC on histopathology; RET/PTC was found in 18% of the PTC cases. In all the cases, the presence of the genetic alteration was confirmed in the surgically resected tumor. The identification of BRAF mutation and RET/PTC refined the diagnosis of PTC in five of 15 samples that were considered either indeterminate or insufficient at cytology. No mutation was found in aspirates of follicular adenomas and nontoxic nodular goiters. These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology.
Istituto di Endocrinologia ed Oncologia Sperimentale del Consiglio Nazionale delle Ricerche and Dipartimento di Biologia e Patologia Cellulare e Molecolare, University Federico II, 80131 Napoli, Italy.
Giuliana
G
Salvatore
Riccardo
R
Giannini
Pinuccia
P
Faviana
Alessia
A
Caleo
Ilenia
I
Migliaccio
James A
JA
Fagin
Yuri E
YE
Nikiforov
Giancarlo
G
Troncone
Lucio
L
Palombini
Fulvio
F
Basolo
Massimo
M
Santoro
D000236:Adenoma / Q000235:genetics / Q000473:pathology; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics; D044963:Biopsy, Fine-Needle; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D015513:Oncogene Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012189:Retrospective Studies; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology*
D014408:Biomarkers, Tumor; D015513:Oncogene Proteins; D015514:Oncogene Proteins, Fusion; D011505:Protein-Tyrosine Kinases; C093573:ret-PTC fusion oncoproteins, human; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf