甲状腺乳头状癌BRAFV600E突变与其超声特征的相关性研究

Associations of the BRAF V600E mutation with sonographic features in patients with papillary thyroid carcinoma

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。

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 V61）0E 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~ （4/11） in the BRAFnegative 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.