Monti Eleonora, Bovero Michela, Mortara Lorenzo, Pera Giorgia, Zupo Simonetta, Gugiatti Elena, Dono Mariella, Massa Barbara, Ansaldo Gian Luca, Massimo Giusti
Department of Internal Medicine, Endocrinology Unit, IRCCS IST Azienda Ospedaliera Universitaria "San Martino", Largo R. Benzi, No. 10, 16132 Genoa, Italy.
Department of Pathology, Molecular Diagnostic Unit, IRCCS IST Azienda Ospedaliera Universitaria "San Martino", Largo R. Benzi, No. 10, 16132 Genoa, Italy.
Int J Endocrinol. 2015;2015:138734. doi: 10.1155/2015/138734. Epub 2015 Nov 26.
Background. Molecular diagnostics has offered new techniques for searching for mutations in thyroid indeterminate lesions. The study's aim was to evaluate the BRAF mutations' incidence in an Italian regional population. Subjects and Methods. 70 Caucasian patients born in Liguria with indeterminate or suspicious cytological diagnoses. Results. A BRAF gene mutation was successfully analyzed in 56/70 patients. The mutation was BRAF V600E in 12/56 cases (21%) and BRAF K601E in 2/56 (4%). Of the BRAF mutated samples on cytological diagnosis (14/56 cases), 2/14 cases (14%) were benign on final histology and 12/14 (86%) were malignant. All BRAF-mutated cases on cytology that were found to be benign on histological examination carried the K601E mutation. Of the nonmutated BRAF cases (42/56, 75%) which were later found to be malignant on definitive histology, 5 cases were follicular carcinomas (36%), 3 cases were incidentally found to be papillary microcarcinomas (22%), 2 were cases papillary carcinomas (14%), 1 was case follicular variant of papillary carcinoma (7%), 1 was case medullary carcinoma (7%), 1 case was Hurtle cell tumor (7%), and 1 case was combined cell carcinoma and papillary oncocytic carcinoma (7%). Conclusions. The presence of the BRAF V600E mutation may suggest a more aggressive surgical approach. BRAF K601E mutation did not correlate with malignancy indexes.
背景。分子诊断技术为甲状腺不确定病变的突变检测提供了新方法。本研究旨在评估意大利某地区人群中BRAF突变的发生率。对象与方法。选取70例利古里亚地区出生、细胞学诊断为不确定或可疑的白种人患者。结果。70例患者中,56例成功检测出BRAF基因突变。其中,12/56例(21%)为BRAF V600E突变,2/56例(4%)为BRAF K601E突变。在细胞学诊断为BRAF突变的样本中(14/56例),最终组织学检查显示2/14例(14%)为良性,12/14例(86%)为恶性。细胞学诊断为BRAF突变且组织学检查为良性的所有病例均为K601E突变。在BRAF未突变的病例中(42/56,75%),最终组织学检查发现为恶性,其中5例为滤泡癌(36%),3例为意外发现的微小乳头状癌(22%),2例为乳头状癌(14%),1例为乳头状癌滤泡变体(7%),1例为髓样癌(7%),1例为Hurthle细胞肿瘤(7%),1例为细胞癌与乳头状嗜酸性细胞癌合并(7%)。结论。BRAF V600E突变的存在可能提示需采取更积极的手术方式。BRAF K601E突变与恶性指标无关。