甲状腺乳头状癌BRAFV600E基因突变及相关蛋白的表达

发布时间：2018-08-19 10:54

【摘要】：背景与目的:BRAF V600E基因突变可作为甲状腺乳头状癌靶向治疗的靶点,因此检测患者BRAF基因状态对于能否应用靶向药物治疗具有重要意义。观察BRAF V600E基因突变及突变蛋白VE1在甲状腺乳头状癌中的表达情况,并分析其与甲状腺乳头状癌的临床病理特征及其预后的关系。方法:采用DNA测序法及免疫组织化学法分别检测108例甲状腺乳头状癌、54例甲状腺腺瘤和54例结节性甲状腺肿标本中BRAF基因突变及其相关蛋白VE1的表达。结果:108例甲状腺乳头状癌基因突变率为67.6%,VE1表达率为64.8%,与甲状腺良性病变相比差异有统计学意义(P0.05),与临床病理参数间无相关性。结论:甲状腺乳头状癌BRAF V600E基因突变率和BRAF V600E蛋白表达水平增高,可以作为鉴别甲状腺良、恶性肿瘤的有效指标。免疫组织化学法检测甲状腺乳头状癌BRAF V600E蛋白的表达与其基因突变的一致性高,可间接有效地反映BRAF V600E基因突变的状态。BRAF V600E基因突变及突变蛋白的表达与甲状腺乳头状癌患者预后无关。
[Abstract]:Background & AIM: BRAF V600E gene mutation can be used as a target of targeted therapy for papillary thyroid carcinoma. Therefore, the detection of BRAF gene status in patients with papillary thyroid carcinoma is of great significance in the application of targeted drug therapy. To observe the expression of BRAF V600E gene mutation and mutant protein VE1 in papillary thyroid carcinoma, and to analyze its relationship with the clinicopathological features and prognosis of papillary thyroid carcinoma. Methods: DNA sequencing and immunohistochemistry were used to detect the expression of BRAF gene mutation and its associated protein VE1 in 54 thyroid adenomas and 54 nodular goiter specimens. Results the mutation rate of thyroid papillary oncogene in 108 cases was 67.8%, which was significantly different from that in benign thyroid lesions (P0.05), and had no correlation with clinicopathological parameters. Conclusion: the mutation rate of BRAF V600E gene and the expression of BRAF V600E protein are increased in papillary thyroid carcinoma, which can be used as an effective marker for differentiating benign and malignant thyroid tumors. The expression of BRAF V600E protein in papillary thyroid carcinoma was detected by immunohistochemical method. The expression of BRAF V600E gene mutation and mutant protein was not related to the prognosis of patients with papillary thyroid carcinoma.
【作者单位】：华北理工大学附属医院病理科;河北省武警总医院病理科;
【基金】：河北省卫生厅科研基金项目(20170928)
【分类号】：R736.1

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