新鲜穿刺样本和HE染色细胞样本在甲状腺穿刺BRAF基因V600检测中的价值  

Comparison of fresh cell samples and HE-stained cell samples of thyroid puncture in detection of BRAF gene V600

作　　者：师晓琴 徐宵宵 何金 蒋立人 蔡毅然 SHI Xiaoqin;XU Xiaoxiao;HE Jin;JIANG Liren;CAI Yiran(Department of Pathology,Shanghai General Hospital,Shanghai 200080,China)

机构地区：[1]上海市第一人民医院病理科,上海200080

出　　处：《同济大学学报（医学版）》2023年第3期350-359,共10页Journal of Tongji University(Medical Science)

摘　　要：目的评价以新鲜穿刺样本和经苏木精伊红(HE)染色后的细胞样本作为甲状腺穿刺鼠类肉瘤滤过性毒菌致癌同源体B1(BRAF)基因V600突变检测样本的适用性。方法收集370例甲状腺乳头状癌(papillary thyroid carcinoma,PTC)患者的临床资料,及术前细针穿刺(fine-needle aspiration,FNA)细胞学样本和术后福尔马林固定石蜡包埋(formalin-fixed,paraffin embedded,FFPE)样本,并按照FNA样本类型的不同,分为两个亚组。采用扩增阻滞突变系统(amplification refractory mutation system,ARMS)法进行BRAF基因V600的突变检测,并分析其与临床病理特征的关系。结果在术后FFPE样本的分析中,BRAF基因V600的突变率与大多临床病理特征无关,但与病灶数显著相关(P=0.028)。在FNA细胞学样本的分析中,BRAF基因V600的突变率与其细胞学诊断分类极显著相关(P=0.002)。新鲜穿刺样本和HE染色后的细胞样本与术后FFPE样本相比,灵敏度分别为95.7%和98.8%;一致性分别为93.7%和95%。结论不论是新鲜穿刺样本还是HE染色的细胞样本,在BRAF基因V600突变状态检测方面均有很高的灵敏度。在甲状腺的细胞学诊断中,二者均可以成为BRAF基因V600检测的有效补充样本。Objective To compare the fresh cell samples and hematoxylin-eosin(HE)-stained cell samples of thyroid puncture for detection of BRAF gene V600 mutation.Methods The preoperative fine-needle aspiration(FNA)samples and postoperative formalin-fixed,paraffin embedded(FFPE)samples of thyroid were collected from 370 patients with papillary thyroid carcinoma(PTC).The mutation of BRAF gene V600 was detected by amplification refractory mutation system(ARMS)in fresh and HE-stained FNA samples,and FFPF samples,respectively.The relationship of BRAF gene V600 mutation with clinicopathological features of PTC was analyzed.Results In postoperative FFPE samples,the mutation rate of BRAF gene V600 was not associated with most clinicopathologic features,but was significantly correlated with the number of lesions(P=0.028).In FNA cytological samples,the mutation rate of BRAF gene V600 was significantly correlated with its cytological diagnostic classification(P=0.002).With the postoperative FFPE samples as gold standard,the sensitivity of fresh cell samples and HE-stained cell samples was 95.7%and 98.8%,respectively.The consistence was 93.7%and 95%,respectively.Conclusion Both fresh cell samples and HE-stained cell samples of thyroid puncture have high sensitivity in detecting BRAF gene V600 mutation,indicating that both of them can be used for the detection of BRAF gene V600.

关 键 词：甲状腺乳头状癌 细针抽吸活检 BRAF ARMS-PCR 

分 类 号：R736.1[医药卫生—肿瘤]