甲状腺乳头状癌 BRAF V600E 突变与其超声特征的相关性研究

摘要

Objective To evaluate the association of the BRAF V600E mutation with sonographic features in patients with papillary thyroid carcinoma.Methods A consecutive series of 61 papillary thyroid carcinoma(PTC) was evaluated by US and elastography before US-FNA,BRAF V600E mutation and surgery.The PTCs were categorized into 2 groups according to the results of the BRAF V600E mutation, BRAF-positive and BRAF-negative patients.The sonographic features were compared between BRAF-positive and BRAF-negative patients.Results The BRAF V600E mutation was detected in 82% of patients (50 of 61).There were no significant difference between BRAF-positive and BRAF-negative PTC on sonographic features including the nodular size,echogenicity,shape,margin,calcification and the pattern of blood flow.However the prevalence of PTC with a score higher than 4 on the Hong et al score was 72%(36∕50) in the BRAF-positive group,significantly higher than 36.4%(4∕1 1) in the BRAF-negative group (P =0.024).A score higher than 4 correlated highly with a BRAF-positive diagnosis(sensitivity 72.0%, specificity 63.6%,positive predictive value 90.0%,negative predictive value 33.3%,accuracy 70.5% and OR 4.5). Conclusions The BRAF V600E mutation was significantly associated with elastography classification,a score higher than 4 on the Hong et al score could highly predict the occurrence of BRAF V600E mutation in papillary thyroid cancer.%目的：探讨甲状腺乳头状癌(papillary thyroid carcinoma,PTC)的声像图特征与 BRAF V600E 基因突变的相关性。方法101个甲状腺结节细针穿刺前行灰阶超声和弹性成像检查,活检时抽取标本进行细胞学检查和 BRAF V600E 基因突变定性检测,其中61个 PTC 取得术后常规病理诊断。将61个 PTC 分为 BRAF V600E 基因突变组与 BRAF V600E 基因野生组,并与超声特征进行对照分析。结果82%(50/61)的甲状腺乳头状癌 BRAF V600E 基因为突变型,18%(11/61)为野生型；BRAF V600E 基因突变组与 BRAF V600E 基因野生组在肿瘤的大小、形态、边缘、内部回声、有无钙化和血流情况方面差异均无统计学意义(P >0.05)；BRAF V600E 基因突变组中弹性评分≥4分的 PTC 占72%(36/50),而在 BRAF V600E 基因野生组中弹性评分≥4分的 PTC 占36.4%(4/11),两组比较差异有统计学学意义(χ2=4.933,P =0.024)。用弹性评分≥4分的 PTC 预测 BRAF V600E 突变阳性的敏感性72.0%,特异性63.6%,阳性预测值90.0%,阴性预测值33.3%,准确性70.5%, OR 4.5(95% CI 1.1~17.8)。结论 PTC 弹性评分与 BRAF V600E 基因突变有相关性,弹性评分≥4分的结节BRAF V600E 基因突变率高。