超声引导下细针穿刺细胞学检查联合BRAFV600E基因突变检测在甲状腺微小结节良恶性鉴别诊断中的价值

The value of ultrasound-guided fine-needle aspiration biopsy combined with BRAFV600E gene mutation detection in differential diagnosis of benign and malignant thyroid nodules smaller than 10 mm

目的探讨超声引导下细针穿刺细胞学检查联合BRAFV600E基因突变检测在甲状腺微小结节良恶性鉴别诊断中的临床价值。方法选取71例结节最大径线≤10mm且具有可疑恶性特征的患者,均行超声引导下细针穿刺细胞学检查(FNAB)和BRAFV600E基因突变检测,以手术病理结果作为甲状腺结节性质诊断的金标准,绘制受试者工作特征(ROC)曲线,分析FNAB、BRAFV600E基因突变检测以及两者联合检测对甲状腺微小结节良恶性的鉴别诊断效能。结果71例甲状腺微小结节的术后病理结果中,恶性的48例均为甲状腺微小乳头状癌(PTMC),良性的23例中,腺瘤5例、桥本甲状腺炎1例、结节性甲状腺肿17例(其中6例局部滤泡上皮异型增生)。与术后病理对照,FNAB术前诊断PTMC的灵敏度77%、特异度91%、诊断符合率82%、ROC曲线下面积(AUC)为0.842。BRAFV600E基因突变检测术前诊断PTMC的灵敏度77%、特异度87%、诊断符合率80%,ROCAUC为0.820。FNAB联合BRAFV600E基因突变术前诊断PTMC的灵敏度90%、特异度78%、诊断符合率85%,ROCAUC为0.860。FNAB联合BRAFV600E基因突变术前检测PTMC的灵敏度高于单独应用FNAB或BRAFV600E基因突变检测(P均<0.05)。结论术前行FNAB联合BRAFV600E基因突变检测能够精确FNAB的诊断,提高术前鉴别诊断甲状腺微小结节良恶性的灵敏度。

Objective To investigate the clinical value of the combined application of ultrasoundguided fine needle aspiration biopsy( FNAB) and BRAFV600E gene mutation detection in differentiating benign from malignant thyroid nodules smaller than 10 mm. Methods Seventy-one patients with thyroid nodules ≤ 10 mm in diameter with suspected malignant characteristics received FNAB and BRAFV600E gene mutation detection. Postoperative pathological examination was regarded as the gold standard of clinical diagnosis. The receiver operating characteristic( ROC) curve was delineated. Diagnostic performance of FNAB, BRAFV600E gene mutation detection and two combined in the differential diagnosis was comparatively analyzed. Results Pathological examination demonstrated that 48 of 71 cases were diagnosed with thyroid papillary carcinoma. Among 23 benign cases, 5 patients were diagnosed with adenomas, 1 with Hashimoto’s thyroiditis, and 17 with nodular goiter( including 6 cases of local follicular epithelial dysplasia). Compared with the gold standard based on postoperative pathological examination, the sensitivity, specificity and correct diagnostic rate of preoperative FNAB were 77%, 91% and 82%, respectively. The area under the ROC curve was 0.842. The sensitivity, specificity and correct diagnostic rate of preoperative BRAFV600E gene mutation detection were 77%, 87% and 80%, respectively. The area under the ROC curve was 0.820. The parameters for FNAB in combination with BRAFV600E gene mutation detection were 90%, 78% and 85%, respectively. The area under the ROC curve was 0.860. In the diagnosis of papillary thyroid microcarcinoma, the sensitivity of FNAB combined with BRAFV600E gene mutation detection was significantly higher than that of FNAB or BRAFV600E gene mutation detection alone( both P < 0.05). Conclusion Preoperative FNAB combined with BRAFV600E gene mutation detection can improve the diagnostic performance of FNAB and enhance the sensitivity in the diagnosis of thyroid nodules smaller than 10 mm.