基于ARMS技术检测不同标本类型BRAF基因状态与甲状腺乳头状癌的相关性探讨

Detection of BRAF gene status in different specimen types and its correlation with papillary thyroid carcinoma based on ARMS technology

目的:探讨扩增阻滞突变系统(amplification refractory mutation system, ARMS)技术检测同一患者不同标本类型BRAF^V600E的突变状态并研究其突变差异性。方法:采用ARMS技术对132例甲状腺细针穿刺细胞学(fine-needle aspiration cytology, FNAC)标本和手术组织学标本进行BRAF^V600E基因突变检测,分析不同标本类型及不同程度病变组织中BRAF^V600E的突变差异性;同时探讨甲状腺乳头状癌(papillary thyroid carcinoma, PTC)临床病理参数和BRAF^V600E突变的相关性。结果:在细胞学方面,BRAF^V600E基因突变率在FNAC明确诊断PTC中为95.56%,FNAC不能明确PTC中为17.24%;在组织学方面,68例PTC中BRAF^V600E的突变率为85.29%,64例良性组织BRAF^V600E未发现突变。另外,BRAF^V600E突变与PTC临床病理参数,如性别、年龄、肿瘤大小、病灶数目、双侧病灶、是否有腺外侵犯及淋巴结转移等因素均无关(均P>0.05)。结论:基于ARMS法检测BRAF^V600E基因状态是PTC非常重要的鉴别诊断指标,BRAF^V600E与FNAC标本联合运用有效提高了PTC的术前诊断率,具有较高的灵敏度和特异性,但与PTC临床病理参数无关。

Objective : To investigate the mutation status of BRAF^V600E in different specimen types of the same patient by amplification refractory mutation system(ARMS) and to study the mutation difference. Methods: 132 cases of BRAF^V600E mutation specimens were analyzed by fine-needle aspiration cytology(FNAC) and ARMS, analysing the mutation differences of different specimen types and different degree of pathological samples. The correlation between BRAF^V600E mutation and PTC clinicopathological characteristics was also analyzed. Results : In cytology,the rate of thyroid carcinoma with BRAF mutation was 95.56%. 17.24% of PTC could not be determined by FNAC. In histology, the mutation rate of BRAF^V600E was 85.29% in68 cases of PTC, and no mutation was found in 64 cases of benign tissue. There were no associations between the BRAF^V600E mutation status and PTC clinicopathological characteristics(eg. gender, age, tumor size, numbers of lesions, bilateral lesions, extrathyroidal extension and lymph node metastasis). Conclusion : Detection of BRAF^V600E gene status based on ARMS is a very important diagnostic index for PTC, FNAC combined with BRAF^V600E mutation detection has higher sensitivity and specificity in distinguishing PTC before surgery. Our study also found that BRAF^V600E mutation was more sensitivity and specificity in diagnosis of PTC, regardless of other clinical characteristics.