BRAF基因V600E突变检测联合US-FNAB检查对甲状腺结节定性诊断的影响  

Influence of BRAF gene V600E mutation test combined with US-FNAB on qualitative diagnosis of thyroid nodule

作　　者：赵路 杨娟[2] 刘春梅[2] 吴涵 ZHAO Lu;YANG Juan;LIU Chunmei;WU Han(Department of Pathology,The Second Affiliated Hospital of Luohe Medical College,Luohe,Henan 462000,China)

机构地区：[1]漯河医学高等专科学校第二附属医院病理科,河南漯河462000 [2]漯河市中心医院病理科,河南漯河462000

出　　处：《淮海医药》2023年第3期226-229,共4页Journal of Huaihai Medicine

摘　　要：目的:研究肉瘤滤过性毒菌致癌同源体B1(BRAF)基因V600E突变检测联合超声引导下细针穿刺细胞学(US-FNAB)检查对甲状腺结节(TN)良恶性诊断的影响。方法:选取2019年1月—2021年12月某院收治的174例(共181个结节)TN患者为研究对象,所有患者均经手术治疗,术前均行BRAF基因V600E突变检测和US-FNAB检查,以术后病理组织学结果为金标准,分析BRAF基因V600E突变检测和US-FNAB检查诊断TN良恶性的效能。结果:132个甲状腺恶性结节中髓样癌1个,滤泡癌3个,转移癌2个,甲状腺乳头状癌126个;49个甲状腺良性结节中桥本氏甲状腺炎4个,甲状腺腺瘤7个,肉芽肿性炎5个,局部纤维增生4个,结节性甲状腺肿29个。BRAF基因V600E突变检测联合US-FNAB检查检出135个恶性结节,46个良性结节。BRAF基因V600E突变检测联合US-FNAB检查诊断TN的灵敏度为96.97%(128/132),准确度为93.92%(170/181),阴性预测值为91.30%(42/46),均高于单独诊断结果(P<0.05);联合检测漏诊率为3.03%(4/132),均低于单独诊断结果(P<0.05)。BRAF基因V600E突变检测联合US-FNAB检查诊断TN恶性肿瘤类型的符合率均高于单独诊断(P<0.05)。结论:BRAF基因V600E突变检测联合US-FNAB检查对TN定性诊断具有较高效能,可为不同性质TN临床治疗方案的制定提供参考依据,对改善预后具有指导意义。Objective:To explore the influence of v-raf murine sarcoma viral oncogene homolog B1(BRAF)gene V600E combined with ultrasound-guided fine needle aspiration biopsy(US-FNAB)on qualitative diagnosis of thyroid nodule(TN).Methods:174 cases of TN patients(181 nodules)in a hospital from January 2019 to December 2021 were selected as study objects.All the patients received operation treatment.BRAF gene V600E mutation test and US-FNAB were conducted before operation,and based on the gold standard of pathohistology,the effect of qualitative diagnosis of TN by BRAF gene V600E mutation test and US-FNAB was analyzed.Results:132 malignant thyroid nodules included medullary carcinoma(1 case),follicular carcinoma(3 cases),metastatic carcinoma(2 cases),and papillary thyroid carcinoma(126 cases).On the other hand,49 benign thyroid nodules contained Hashimoto's thyroiditis(4 cases),thyroid adenoma(7 cases),granulomatous inflammation(5 cases),local fibrous hyperplasia(4 cases),and nodular goiter(29 cases).135 malignant nodules and 46 benign nodules were detected by BRAF gene V600E mutation test combined with US-FNAB,with sensitivity 96.97%(128/132),accuracy 93.92%(170/181)and negative predictive value 91.30%(42/46),all higher than the results of separate diagnosis(P<0.05).The rate of missed diagnosis of the joint detection was 3.03%(4/132),all lower than that of separate diagnosis(P<0.05).The coincidence rate of joint diagnosis of malignant TN type carcinoma by BRAF gene V600E mutation test and US-FNAB was higher than separate diagnosis(P<0.05).Conclusion:Joint detection by BRAF gene V600E mutation test and US-FNAB for the qualitative diagnosis of TN is highly effective,which can provide reference for the clinical protocols in the treatment of thyroid nodule and is of high significance for the improvement of prognosis.

关 键 词：甲状腺结节 US-FNAB检查 BRAF V600E 定性诊断 

分 类 号：R581[医药卫生—内分泌]