BRAF^(V600E)基因突变促进甲状腺微小乳头状癌侵袭研究

BRAF^(V600E) mutation promote the invasion of papillary thyroid microcarcinoma

目的 探讨BRAF^(V600E)基因突变在甲状腺微小乳头状癌(PTMC)中的表达及其与患者临床病理特征、预后的关系。方法 采用扩增阻滞突变系统法检测BRAF^(V600E)基因在570例PTMC中的表达,Logistic回归分析基因突变与PTMC临床病理特征、预后的相关性。结果 PTMC患者BRAF^(V600E)基因突变阳性率为86.8%(495/570)。BRAF^(V600E)基因突变与PTMC的肿瘤长径及颜色呈正相关。随着肿瘤长径的增加,BRAF^(V600E)基因突变的风险提高7倍[OR(95%CI)=7.381(2.437~22.321),P<0.001]。当PTMC肿瘤颜色为灰白色时,BRAF^(V600E)基因突变阳性率显著增加[OR(95%CI)=1.986(1.075~3.662),P=0.037]。另外,伴随桥本氏甲状腺炎的PTMC患者BRAF^(V600E)基因突变频率显著降低[OR(95%CI)=0.416(0.187~0.923),P=0.031]。结论 随着肿瘤长径的增加,PTMC患者BRAF^(V600E)基因突变频率显著增加,提示BRAF^(V600E)基因突变阳性的PTMC患者肿瘤侵袭性可能更强。

Objective To investigate the correlation of BRAF V600E mutation and the clinicopathologic characteristics and prognosis of papillary thyroid microcarcinoma (PTMC). Methods Amplification refractory mutation system was used to detect BRAF V600E mutation status in 570 PTMC patients. The potential correlation between BRAF V600E mutation and clinicopathologic characteristics and prognosis of PTMC was analyzed by Logistic regression analysis. Results The positive rate of BRAF V600E mutation in PTMC was 86.8% (495/570). BRAF V600E mutation was correlated with tumor size and color. The risk of BRAF V600E mutation was increased significantly along with the tumor size increase [ OR (95% CI )=7.381(2.437-22.321), P <0.001]. In addition, when the tumor color was gray, the positive rate of BRAF V600E mutation was significant increased [ OR (95% CI )=1.986(1.075-3.662), P =0.037]. However, the positive rate of BRAF V600E mutation was significant decreased when PTMC concomitant with Hashimoto’s thyroiditis [ OR (95% CI )=0.416(0.187-0.923), P = 0.031 ]. Conclusion The BRAF V600E mutation might play an essential role in thyroid carcinogenesis. BRAF V600E mutation is positively correlated with the tumor size of PTMC, PTMC has more invasiveness when BRAF V600E mutation.