摘要
目的探讨BRAFV600E基因检测对TBSRTCⅠ类、Ⅱ类甲状腺结节良恶性的辅助诊断价值。方法回顾性收集首都医科大学附属北京同仁医院2021年8月~2024年6月超声引导下细针穿刺细胞学检查(FNAC)结果为TBSRTCⅠ类和Ⅱ类甲状腺结节同时具有BRAF^(V600E)基因检测结果的病例,其中Ⅰ类176例,182个结节;Ⅱ类492例,503个结节。以有手术组织病理结果做“金标准”的结节为研究对象,包括Ⅰ类26个,Ⅱ类37个,分析BRAF^(V600E)基因检测对TBSRTCⅠ类、Ⅱ类结节良恶性鉴别的灵敏度、特异度、阳性预测值、阴性预测值和准确性。结果26个TBSRTCⅠ类结节中有22个为甲状腺乳头状癌(PTC),4个为良性病变;37个Ⅱ类结节中有18个为PTC,19个为良性病变。BRAF^(V600E)基因检测对TBSRTCⅠ类、Ⅱ类结节良恶性鉴别的灵敏度分别为100%(22/22)、83.3%(15/18),特异度分别为100%(4/4)、94.7%(18/19),阳性预测值分别为100%(22/22)、93.7%(15/16),阴性预测值分别为100%(4/4)、85.7%(18/21),准确性分别为100%(26/26)、89.2%(33/37)。重复穿刺的3个甲状腺结节FNAC结果一致率为0%(0/3),BRAF^(V600E)基因检测结果一致率为100%(1/1)。结论BRAF^(V600E)基因检测对于TBSRTCⅠ类、Ⅱ类甲状腺结节良恶性鉴别是有效的辅助诊断手段,除对TBSRTCⅢ~Ⅴ类结节进行BRAF^(V600E)基因检测之外,TBSRTCⅠ类及Ⅱ类结节也建议纳入常规BRAF^(V600E)基因检测以减少患者重复穿刺的必要及降低对PTC的漏诊率。
OBJECTIVE To investigate the diagnostic value of BRAFV600E gene detection for the benign and malignant nature of TBSRTC categories I andⅡthyroid nodules.METHODS Cases with ultrasound-guided fine-needle aspiration cytology(FNAC)results of TBSRTC categoriesⅠandⅡthyroid nodules with concomitant BRAFV600E gene detection results were retrospectively collected from August 2021 to June 2024 in Beijing Tongren Hospital,Capital Medical University(176 patients with 182 nodules in categoryⅠ,492 patients with 503 nodules in categoryⅡ).The sensitivity,specificity,positive predictive value,negative predictive value and accuracy of BRAFV600E gene detection on the benign and malignant nature of TBSRTC categoriesⅠandⅡthyroid nodules were analyzed using nodules with surgical histopathological results as the‘gold standard’(26 categoryⅠand 37 categoryⅡnodules).RESULTS Twenty-two of the 26 categoryⅠnodules were papillary thyroid carcinoma(PTC)and 4 were benign lesions;18 of the 37 categoryⅡnodules were PTC and 19 were benign lesions.The sensitivities of BRAFV600E gene detection on the benign and malignant nature of TBSRTC categoriesⅠandⅡthyroid nodules were 100%(22/22)and 83.3%(15/18),the specificities were 100%(4/4)and 94.7%(18/19),the positive predictive values were 100%(22/22)and 93.7%(15/16),the negative predictive values were 100%(4/4)and 85.7%(18/21),and the accuracy rates were 100%(26/26)and 89.2%(33/37).There was a 0%(0/3)concordance of FNAC results for the 3 thyroid nodules with repeat puncture and a 100%(1/1)concordance of BRAFV600E gene detection results.CONCLUSION BRAFV600E gene detection is an effective diagnostic method for the differentiation of benign and malignant nature of TBSRTC categoriesⅠandⅡthyroid nodules.In addition to BRAFV600E gene detection for TBSRTC categoriesⅢ-Ⅴnodules,it is recommended that TBSRTC categoriesⅠandⅡnodules also be included in routine BRAFV600E gene detection to minimize the need for repeat puncture in patients and to reduce the rate of missed diagn
作者
曹丁方
马东林
朴颖实
CAO Dingfang;MA Donglin;PIAO Yingshi(Department of Pathology,Beijing Tongren Hospital,Capital Medical University,Beijing Key Laboratory of Head and Neck Molecular Diagnostic Pathology,Beijing,100730,China)
出处
《中国耳鼻咽喉头颈外科》
CSCD
2024年第10期626-630,共5页
Chinese Archives of Otolaryngology-Head and Neck Surgery
