BRAF^(V600E)突变检测在BSRTCⅠ、Ⅲ类甲状腺结节中的诊断价值  

Diagnostic value of BRAF^(V600E)mutation detection in BSRTC categoriesⅠandⅢthyroid nodules

作　　者：管文燕[1] 郑金榆[1] 聂岭[1] 杨军[1] 崔晓宾 苗淑莹 Guan Wenyan;Zheng Jingyu;Nie Ling;Yang Jun;Cui Xiaobin;Miao Shuying(Department of Pathology,the Affiliated Drum Tower Hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院病理科,南京210008

出　　处：《中华核医学与分子影像杂志》2023年第3期166-170,共5页Chinese Journal of Nuclear Medicine and Molecular Imaging

摘　　要：目的探讨B-Raf原癌基因丝/苏氨酸蛋白激酶(BRAF)V600E突变检测在Bethesda甲状腺细胞病理学报告系统(BSRTC)Ⅰ、Ⅲ类结节良恶性诊断中的价值。方法回顾性收集2019年1月至2020年12月间共263例患者(男79例、女184例,中位年龄46岁)的264个结节,均在南京大学医学院附属鼓楼医院行BRAF^(V600E)突变检测和细针穿刺细胞学检查(FNAC),并实施甲状腺结节切除术,其中12例患者的13个结节有重复穿刺样本,51个结节用术后切除标本进行甲状腺癌多基因检测验证。以术后组织病理结果为"金标准",同时比较术后多基因检测结果、重复穿刺样本BRAF^(V600E)突变检测结果,分析BRAF^(V600E)突变检测的诊断效能。结果264个结节中230个为甲状腺乳头状癌(PTC),34个为良性结节;BSRTCⅠ类(未诊断)、Ⅲ类(滤泡性病变)结节数分别为58、206个。BRAF^(V600E)突变检测在BSRTCⅠ、Ⅲ类结节中的诊断灵敏度分别为77.1%(37/48)、78.0%(142/182),特异性为9/10、91.7%(22/24),阳性预测值为97.4%(37/38)、98.6%(142/144),阴性预测值为45.0%(9/20)、35.5%(22/62),准确性为79.3%(46/58)、79.6%(164/206)。51个术前BRAF^(V600E)为野生型但术后病理证实为PTC的结节经术后多基因检测验证,手术前后BRAF^(V600E)突变检测的一致性达90.2%(46/51);通过重复穿刺样本的检测结果分析,BRAF^(V600E)突变检测的诊断一致性为11/13。结论对于无法准确判断良恶性的BSRTCⅠ、Ⅲ类结节,BRAF^(V600E)突变检测是有效的辅助诊断手段。Objective To evaluate the value of B-Raf proto-oncogene,serine/threonine kinase(BRAF)V600E mutation detection in the differentiating malignant from benign with Bethesda system for reporting thyroid cytopathology(BSRTC)categoriesⅠandⅢnodules.Methods From January 2019 to December 2020,a total of 264 nodules from 263 patients(79 males,184 females;median age 46 years)were retrospectively enrolled and all patients underwent BRAF^(V600E)mutation detection,fine-needle aspiration cytology(FNAC)and thyroid nodulectomy in the Affiliated Drum Tower Hospital of Nanjing University Medical School.Thirteen nodules of 12 patients had repeat aspirate samples and 51 nodules were examined with multiple genes assay in formalin fixed paraffin embedded tissues.Taken the postoperative histopathological results as the gold standard,the diagnostic efficiency of BRAF^(V600E)mutation was analyzed by comparing the results of multiple genes assay and BRAF^(V600E)mutation detection of repeated puncture samples.Results Of 264 nodules,230 were malignant(papillary thyroid cancer(PTC))and 34 were benign,with BSRTC categoriesⅠ(nondiagnostic)andⅢ(follicular lesion)nodules of 58 and 206.The sensitivities of BRAF^(V600E)mutation detection in BSRTC categoriesⅠandⅢnodules were 77.1%(37/48)and 78.0%(142/182),the specificities were 9/10 and 91.7%(22/24),the positive predictive values were 97.4%(37/38)and 98.6%(142/144),the negative predictive values were 45.0%(9/20)and 35.5%(22/62),and the accuracy rates were 79.3%(46/58)and 79.6%(164/206).The diagnostic concordance of BRAF^(V600E)mutation detection was 90.2%(46/51)in the preoperative and postoperative samples of 51 nodules with preoperative BRAF^(V600E)wild type but postoperative pathology confirmed as PTC and was 11/13 in repeat puncture samples.Conclusion BRAF^(V600E)mutation detection is an effective diagnostic method for BSRTC categoriesⅠandⅢnodules.

关 键 词：甲状腺结节 原癌基因蛋白质B-raf 突变 活组织检查 细针 

分 类 号：R736.1[医药卫生—肿瘤]