Search of BRAFV600E mutation and RET/PTC rearrangement in thyroid fine-needle aspiration biopsies in sardinian patients. In recent years, the use combined of molecular biology techniques with traditional cytology allowed the study of the expression pattern of oncogenes involved in the genesis of papillary thyroid carcinoma. In this prospective study, the prevalence of BRAFV600E mutation and the RET/PTC1 rearrangement were evaluated in 260 thyroid fine-needle aspiration biopsies (FNAB), and the results compared with the cytological and histological diagnosis. The study also aimed to ascertain whether the frequency and the diagnostic value of these molecular markers in the Sardinian population (showing genetic peculiarities), differ from those of other series from other geographical areas. In 32 nodules with malignant or suspect cytology (all surgically treated, of whom 29 [90,6%] malignant) BRAFV600E mutation was found in 12 patients (37,5%) and RET/PTC1 in 3 patients (9,4%). In contrast, no mutation was found in nodules with indeterminate (n=43), benign (n=62) and inadequate (n=20) cytology, although of 33 operated patients of this group, 8 (24.2%) had histologically confirmed malignant tumors. These results confirm that the presence of BRAFV600E and RET/PTC1 in thyroid FNAB is highly specific of malignancy, although the test does not attain sufficient diagnostic sensitivity if only these oncogenes are sought. Finally, comparison with previously published studies shows that the frequency of BRAFV600E and RET/PTC1 in thyroid FNAB from Sardinian patients is similar to that reported in most other geographical areas.
Ricerca della mutazione BRAFV600E e del riarrangiamento RET/PTC negli agoaspirati tiroidei in pazienti sardi
RIOLA, ALESSIA;CAPPAI, ANTONELLO;BOI, FRANCESCO;MARIOTTI, STEFANO
2010-01-01
Abstract
Search of BRAFV600E mutation and RET/PTC rearrangement in thyroid fine-needle aspiration biopsies in sardinian patients. In recent years, the use combined of molecular biology techniques with traditional cytology allowed the study of the expression pattern of oncogenes involved in the genesis of papillary thyroid carcinoma. In this prospective study, the prevalence of BRAFV600E mutation and the RET/PTC1 rearrangement were evaluated in 260 thyroid fine-needle aspiration biopsies (FNAB), and the results compared with the cytological and histological diagnosis. The study also aimed to ascertain whether the frequency and the diagnostic value of these molecular markers in the Sardinian population (showing genetic peculiarities), differ from those of other series from other geographical areas. In 32 nodules with malignant or suspect cytology (all surgically treated, of whom 29 [90,6%] malignant) BRAFV600E mutation was found in 12 patients (37,5%) and RET/PTC1 in 3 patients (9,4%). In contrast, no mutation was found in nodules with indeterminate (n=43), benign (n=62) and inadequate (n=20) cytology, although of 33 operated patients of this group, 8 (24.2%) had histologically confirmed malignant tumors. These results confirm that the presence of BRAFV600E and RET/PTC1 in thyroid FNAB is highly specific of malignancy, although the test does not attain sufficient diagnostic sensitivity if only these oncogenes are sought. Finally, comparison with previously published studies shows that the frequency of BRAFV600E and RET/PTC1 in thyroid FNAB from Sardinian patients is similar to that reported in most other geographical areas.
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