Value of color Doppler ultrasound, ultrasound-guided fine needle aspiration cytology combined with BRAFV600E gene detection in diagnosis of microthyroid nodules
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摘要:目的
探讨彩色多普勒超声检查、超声引导下细针穿刺细胞学检查(US-FNAC)联合BRAFV600E基因检测对微小甲状腺结节的诊断价值。
方法选取中高风险微小甲状腺结节患者103例为研究对象。患者行甲状腺影像报告和数据系统(TI-RADS)分级, 术前均行彩色多普勒超声检查、US-FNAC及丝氨酸/苏氨酸特异性激酶突变基因V600E(BRAFV600E)检测。术后根据病理结果计算并比较单独检测和三者联合检测的敏感性、特异性和准确性，分析诊断效能。
结果超声检查显示，不同性质结节的纵横比、结构、回声、钙化及边缘情况比较，差异均有统计学意义(P < 0.05)。良性结节和恶性结节垂直位、低回声、点状强回声或微钙化及边缘不规则生长的诊断结果比较，差异有统计学意义(P < 0.05)。103例研究对象中, US-FNAC检查诊断为Ⅴ、Ⅵ级的患者63例(共98个结节，其中67个恶性)，占比61.2%; Ⅲ、Ⅳ级的患者26例(共32个结节，其中14个恶性)，占比25.2%; Ⅱ级的12例(共12个结节，无恶性)，占比11.7%; Ⅰ级的2例(共2个结节，其中1个恶性)，占比1.9%。BRAFV600E基因检测有72例发生突变(共111个结节, 其中76个恶性)，占比69.9%; 无突变患者31例(共33个结节，其中6个恶性)，占比30.1%。超声检查、US-FNAC检查、BRAFV600E基因检测的敏感性、特异性和准确性分别为75.3%、62.5%、73.0%, 79.5%、68.8%、77.5%与93.2%、68.8%、88.8%; 三者联合诊断的敏感性、特异性和准确性均最高，分别为97.3%、75.0%、93.3%。联合诊断的敏感性、特异性和准确性高于单独检测，差异有统计学意义(P < 0.05)。
结论联合检测可提高对甲状腺乳头状微小癌的检出率，有助于微小结节精准的术前评估。
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关键词:
- 彩色多普勒超声 /
- 细针穿刺细胞学检查 /
- BRAFV600E基因突变 /
- 甲状腺乳头状微小癌 /
- 诊断
Abstract:ObjectiveTo investigate the diagnostic value of color Doppler ultrasound, ultrasound-guided fine needle aspiration cytology (US-FNAC) combined with BRAFV600E gene detection in small thyroid nodules.
MethodsA total of 103 patients with moderate or high risk small thyroid nodules were selected as study subjects. The Thyroid Imaging Reporting and Data System (TI-RADS) grading, preoperative color doppler ultrasound US-FNAC and silk/threonine specific kinase mutant gene V600E (BRAFV600E) detection were performed. The sensitivity, specificity and accuracy of each examination alone and their combination were compared according to the pathological results, and the diagnostic performance was analyzed.
ResultsThe ultrasound examination showed that there were statistically significant differences in aspect ratio, structure, echo, echoes, calcification and marginal growth of nodules of different nature (P < 0.05). Of the 103 subjects, 63 cases (98 nodules with 67 malignant ones) were diagnosed as grade V or VI by US-FNAC examination, accounting for 61.2%. There were 26 patients with grade Ⅲ and Ⅳ (32 nodules with 14 malignant ones), accounting for 25.2%. There were 12 cases of grade Ⅱ (12 nodules in total without malignancy), accounting for 11.7%; there were 2 cases of grade Ⅰ (2 nodules with one malignant nodule), accounting for 1.9%. BRAFV600E gene examination showed that 72 cases (111 nodules, 76 of which were malignant) was detected, accounting for 69.9%. There were 31 patients without mutation (33 nodules in total, 6 of which were malignant), accounting for 30.1%. The sensitivity, specificity and accuracy of ultrasound examination, US-FNAC examination and BRAFV600E gene test were 75.3%, 62.5%, 73.0%, respectively, 79.5%, 68.8%, 77.5%, respectively and 93.2%, 68.8%, 88.8%, respectively. The sensitivity, specificity and accuracy of their combined diagnosis were the highest, which were 97.3%, 75.0% and 93.3%, respectively. The sensitivity, specificity and accuracy of their combined diagnosis were higher than those of single detection (P < 0.05).
ConclusionCombined detection can improve the detection rate of thyroid papillary microcarcinoma, which is conducive to accurate preoperative evaluation of small nodules.
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表 1 US影像学特征结果比较
个 US影像学特征 分类 良性结节(n=47) 恶性结节(n=82) P 纵横比 垂直位 2 73 ＜0.001 水平位 45 9 结构 实性或实性为主 43 82 0.031 囊性为主 4 0 回声 低回声或极低回声 10 76 ＜0.001 高回声或等回声 37 6 钙化 点状强回声或微钙化 6 70 ＜0.001 无钙化 41 12 边缘 不规则生长 3 68 ＜0.001 规则生长 44 14 
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表 2 US-FNAC和BRAFV600E基因检测结果
例 BRAFV600E基因检测 US-FNAC检测结果 Ⅰ级 Ⅱ级 Ⅲ级 Ⅳ级 Ⅴ级 Ⅵ级 合计 基因突变 1 0 9 1 47 14 72 无突变 1 12 11 5 2 0 31 合计 2 12 20 6 49 14 103
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表 3 各种检查的诊断性能
检查方法 结果 手术病理结果/例 敏感性/% 特异性/% 准确性/% 阳性(n=73) 阴性(n=16) 合计 US 阳性 55 6 61 75.3 62.5 73.0 阴性 18 10 28 US-FNAC 阳性 58 5 63 79.5 68.8 77.5 阴性 15 11 26 BRAFV600E基因检测 阳性 68 5 73 93.2 68.8 88.8 阴性 5 11 16 三者联合检测 阳性 71 4 75 97.3 75.0 93.3 阴性 2 12 14
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