甲状腺乳头状癌BRAF基因突变与超声及病理特征相关性研究

Correlation of BRAF mutation,ultrasound characteristics and pathological features in papillary thyroid carcinoma

目的探讨甲状腺乳头状癌(PTC)超声征像、病理特征与BRAF基因突变间的相关性。方法回顾性分析247例行甲状腺切除术经病理证实为PTC患者的超声征象、病理特征及BRAF基因突变等参数,计算BRAF基因突变率,分析对比BRAF基因突变阳性与阴性患者间的超声征象与病理特征之间的关系。结果247例患者中147例出现BRAF基因突变,突变率为57.9%。甲状腺微小癌组BRAF基因突变发生率低于PTC组(43.7%vs.70.8%,χ~2=18.362, P<0.001);PTC中BRAF基因突变阳性与阴性者间超声征象比较差异均无统计学意义(P均>0.05)。BRAF基因突变与甲状腺腺体外侵犯(χ~2=7.954, P<0.05)、中央区淋巴结转移(χ~2=10.772, P<0.05)以及较高的肿瘤分期(χ~2=4.361, P<0.05)有关。结论 BRAF基因在PTC中突变率较高,且与其病理特征有关,而与超声征象特点无关。术前进行BRAF基因突变检测对其进行风险分层,有助指导制定PTC的手术路径。

Objective To investigate the correlation of ultrasound characteristics,pathological feature and BRAF mutation in papillary thyroid carcinoma(PTC).Methods The ultrasonic findings,pathological characteristics and BRAF mutation were retrospectively analyzed in 247 patients who were surgically diagnosed with PTC by thyroidectomy.The incidence of BRAF mutation was calculated.The ultrasonic findings and pathological characteristics were statistically compared between BRAFpositive and BRAFnegative patients.Results The BRAF mutation was detected in 57.9%of all patients(147/247).The incidence of BRFA mutation in the thyroid microcarcinoma group was significantly lower compared with that in the PTC group(43.7%vs.70.8%,χ2=18.362,P<0.001).The ultrasonic findings did not significantly differ between BRAFpositive and BRAFnegative patients in the thyroid microcarcinoma group(all P>0.05).The BRAF mutation was significantly associated with extrathyroidal invasion(χ2=7.954,P<0.05),central lymph node metastasis(χ2=10.772,P<0.05)and advanced tumor staging(χ2=4.361,P<0.05).Conclusions The BRAF mutation is frequently observed in patients with PTC,which is significantly correlated with pathological features rather than ultrasound characteristics.Preoperative detection of BRAF mutation for risk stratification provides guidance to the surgical approach for PTC patients.