甲状腺癌超声特征与BRAF V600E基因突变相关性分析

Correlation analysis of ultrasound features and BRAF V600E gene mutation in thyroid cancer

目的探讨BRAF V600E基因突变与甲状腺癌超声表现及病变侵袭性之间的关系。方法选取2018年1月至2019年10月在山西省肿瘤医院行甲状腺手术切除、术后病理诊断为甲状腺癌的153例患者为研究对象,其中甲状腺乳头状癌146例。术前进行超声检查,术后利用石蜡包埋组织检测BRAF V600E基因突变。按照BRAF V600E基因检测结果分为突变组与未突变组,比较两组超声特征的差异,并对BRAF V600E基因突变与超声特征、临床病理特征以及颈部淋巴结转移的关系进行logistic回归分析。结果153例甲状腺癌中,130例(85.0%)BRAF V600E基因突变,23例未发生突变。其中146例甲状腺乳头状癌患者中BRAF V600E基因突变128例(87.7%)。BRAF基因突变组病灶与被膜分界不清患者比例高于未突变组,差异有统计学意义[46.9%(60/128)比11.1%(2/18),χ^2=8.261,P=0.004],两组在年龄、性别、结节长径、纵横比、结节位置、内部钙化、内部回声、回声均匀与否、囊实性、结节形态、边界是否清楚、血流信号、癌灶数量、淋巴结是否转移、是否伴结节性甲状腺肿方面差异均无统计学意义(均P>0.05)。多因素logistic回归分析结果表明,甲状腺病灶与被膜分界是否清晰为BRAF V600E基因突变的独立影响因素(OR=14.400,95%CI 1.847~112.246,P=0.011),病灶大小为甲状腺乳头状癌颈部淋巴结转移的独立影响因素(OR=2.714,95%CI 1.335~5.517,P=0.006)。结论甲状腺乳头状癌中,BRAF V600E基因突变和病灶与被膜分界不清有关,而与淋巴结转移无关;病灶大小和淋巴结转移有关。

Objective To investigate the relationship between BRAF V600E gene mutation and ultrasonography manifestations as well as the lesion invasiveness in thyroid cancer.Methods A total of 153 patients pathologically diagnosed as thyroid cancer after surgery who underwent thyroidectomy in Shanxi Provincial Cancer Hospital from January 2018 to October 2019 were selected,including 146 cases of papillary thyroid carcinoma.Ultrasonography was performed before operation.Paraffin embedded tissue after operation was used to detect BRAF V600E gene mutation.According to the results of BRAF V600E gene detection,patients were divided into mutation group and non-mutation group.The ultrasonic characteristics of the two groups were compared.The relationship of BRAF V600E gene mutation with ultrasonic characteristics,clinicopathological characteristics as well as cervical lymph node metastasis was analyzed by using logistic regression.Results There were 130 cases(85.0%)of BRAF V600E gene mutation and 23 cases of BRAF V600E gene non-mutation in 153 patients with thyroid cancer.Among 146 cases with papillary thyroid carcinoma,there were 128 cases(87.7%)of BRAF V600E gene mutation.The percentage of patients with the unclear boundary between thyroid lesions and capsule in BRAF V600E gene mutation group was higher than that of patients in non-mutation group,and the difference was statistically significant[46.9%(60/128)vs.11.1%(2/18),χ^2=8.261,P=0.004].There were no significant differences in age,gender,nodule long diameter,aspect ratio,nodal location,internal calcification,internal echo,echo uniformity,cystic solid,nodal shape,boundary clarity,blood flow signal,the number of tumor site,lymph node metastasis and nodular goiter between BRAF gene mutation group and non-mutation group(all P>0.05).The results of logistic regression analysis showed that only the boundary clarity between thyroid lesions and capsule was an independent influencing factor of BRAF V600E gene mutation(OR=14.400,95%CI 1.847-112.246,P=0.011),tumor lesion size was an independent influencing factor of cervical lymph node metastasis in papillary thyroid carcinoma(OR=2.714,95%CI 1.335-5.517,P=0.006).Conclusions In papillary thyroid carcinoma,BRAF V600E gene mutation is related with lesion and the unclear boundary between the tumor and capsule,but not related with lymph node metastasis.The size of the tumor lesion is associated with lymph node metastasis.