广东梅州客家人群甲状腺癌BRAF基因V600E突变特点分析——附316例单中心研究

目的 探讨广东梅州客家人群甲状腺癌鼠类肉瘤滤过性毒菌致癌同源体B1 （BRAF）基因V600E突变特点。方法 收集316例广东梅州客家地区的甲状腺癌患者的临床资料及BRAF基因V600E突变检测结果,对BRAF基因V600E突变与肿瘤特征的关系进行单因素分析和多因素Logistic回归分析。结果 316例患者BRAF基因V600E总体突变率为75.3% （238/316）,其中乳头状癌突变率为77.0%（238/309）。单因素分析显示BRAF基因V600E突变型患者肿瘤径线较小,纵横比大于1、微钙化比例较高,Ⅵ区和颈侧区淋巴结转移比例较低（P均< 0.05）;多因素Logistic回归分析提示BRAF V600E突变与Ⅵ区淋巴结转移（OR = 2.289, 95% CI = 1.283 ~ 4.081, P = 0.005）、超声回声（OR = 0.419, 95% CI = 0.209 ~ 0.841, P = 0.014）及粗大钙化（OR = 3.673, 95% CI = 1.395 ~ 9.668, P = 0.008）有关。结论 广东梅州客家地区人群甲状腺癌BRAF基因V600E突变率较高,BRAF基因V600E突变者易发生Ⅵ区淋巴结转移。

Mutation characteristics of BRAF V600E in thyroid carcinoma patients from Meizhou Hakka area: a single center study of 316 cases

Objective To summarize the mutation characteristics of V-raf munine sarcom viral oncogene homolog （BRAF） V600E in Meizhou Hakka patients with thyroid carcinoma. Methods Clinical data and BRAF V600E detection results of 316 thyroid carcinoma patients from Meizhou Hakka area were collected. The relationship between BRAF V600E mutation and tumor characteristics was analyzed by univariate and multivariate logistic regression analyses. Results The overall BRAF V600E mutation rate was 75.3% （238/316） of thyroid carcinoma patients from Meizhou Hakka area, and 77.0% （238/309） for the mutation rate of papillary thyroid carcinoma. Univariate analysis suggested that patients with BRAF V600E mutation showed smaller tumor diameter, higher proportion of aspect ratio of > 1 and microcalcification, less proportion of lymph node metastasis in the VI and lateral cervical regions （all P < 0.05）. Multivariate logistic regression analysis indicated that BRAF V600E mutation was significantly associated with lymph node metastasis in the VI region （OR = 2.289, 95%CI = 1.283-4.081, P = 0.005）, ultrasonic echo （OR = 0.419, 95%CI = 0.209-0.841, P = 0.014） and gross calcification （OR = 3.673, 95%CI = 1.395-9.668, P = 0.008）. Conclusion The BRAF V600E mutation rate of thyroid carcinoma patients from Meizhou Hakka area is relatively high. BRAF V600E mutation is prone to lymph node metastasis in the VI region.