BRAF^V600E基因检测在术前辅助细针穿刺细胞学诊断甲状腺微小乳头状癌中的意义

Significance of fine-needle aspiration biopsy with BRAF^V600E gene detection in preoperative diagnosis of papillary thyroid microcarcinoma

目的评价BRAF^V600E基因检测对于甲状腺细针穿刺活检(fine-needle aspiration biopsy,FNAB)细胞学诊断甲状腺微小乳头状癌(papillary thyroid microcarcinoma,PTMC)的意义。方法回顾性分析行甲状腺FNAB检查并有术后临床病理诊断结果进行对比的病例81例。采用实时定量聚合酶链反应(real-time PCR)法检测BRAF^V600E基因突变。结果81例甲状腺结节FNAB患者中,24例为意义不明确的细胞非典型病变,其中14例发生BRAF^V600E突变;57例为可疑乳头状癌细胞,其中50例发生BRAF^V600E突变。与手术病理金标准比较,BRAF^V600E基因突变判断PTMC的阳性预测值为100.0%,阴性预测值为52.9%。结论细胞学诊断为意义不明的非典型细胞和可疑癌细胞病例联合BRAF^V600E检测可以提高术前PTMC的诊断率。

Objective To evaluate the application of thyroid fine-needle aspiration biopsy(FNAB)combined with BRAF^V600E gene mutation detection in preoperative diagnosis of papillary thyroid microcarcinoma(PTMC).Methods A total of 81 cases of thyroid FNAB were collected and compared with the results of postoperative clinical pathological diagnosis.The BRAF^V600E gene was detected by real-time quantitative polymerase chain reaction(PCR).Results Of the 81 patients with thyroid FNAB,24 were atypical cell lesions with unclear significance,14 of which had BRAF^V600E mutations;57 were suspected papillary carcinoma cells,of which 50 had BRAF^V600E mutations.Compared with the surgical pathology gold standard,the positive predictive value of BRAF^V600E gene mutation in judging PTMC was 100.0%,and the negative predictive value was 52.9%.Conclusions Preoperative diagnosis rate of PTMC can be improved by FNAB combined with BRAF^V600E gene mutation detection.