细针穿刺细胞学联合多基因检测在甲状腺结节诊断中的应用效果研究

Study on application effect of fine needle aspiration cytology combined withmulti-gene detection in diagnosis of thyroid nodules

目的 研究超声引导下细针穿刺标本中BRAF、RAS、TERT基因的表达特点及其在甲状腺结节术前诊断中的应用价值。方法 回顾性分析航空总医院甲状腺结节细针穿刺标本537例。每例标本的细胞涂片和液基细胞制片行巴氏染色,并依据Bethesda分级系统判读结果。穿刺组织采用实时荧光定量PCR分析基因突变情况。结果 BethesdaⅠ类结节65例(12.10%),Ⅱ类153例(28.49%),Ⅲ类84例(15.64%),Ⅳ类9例(1.68%),Ⅴ类73例(13.59%),Ⅵ类153例(28.49%)。BRAF V600E突变220例(40.97%),NRAS突变21例(3.91%),KRAS突变6例(1.12%),HRAS突变2例(0.37%)。其中BRAF V600E与KRAS共突变1例。BRAF V600E基因突变与患者细胞学诊断结果具有相关性(P<0.05);年龄较小者更易发生BRAF V600E突变(P<0.05);相较于女性患者,男性更易发生BRAF V600E突变(P<0.05);甲状腺左叶的结节更易发生KRAS突变(P<0.05)。结论 在甲状腺细针穿刺标本中,BRAF V600E基因突变最常见,在RAS基因突变中NRAS突变居多。

Objective To investigate the expression characteristics of BRAF,RAS and TERT genes in ultrasound-guided fine needle aspiration specimens and their application value in the preoperative diagnosis of thyroid nodules.Methods A retrospective analysis was performed on 537 cases of fine needle aspiration specimens of thyroid nodules in the Aviation General Hospital.The cell smear and liquid-based cell section preparation from each specimen conducted the Papanicolaou’s stain and the results were interpreted according to the Bethesda grading system.The gene mutation situation in punctured tissues was analyzed by real-time quantitative PCR.Results There were 65 cases(12.10%)of Bethesda classⅠnodules,153 cases(28.49%)of classⅡ,84 cases(15.64%)of classⅢ,9 cases(1.68%)of classⅣ,73 cases(13.59%)of classⅤand 153 cases(28.49%)of classⅥ.There were 220 cases(40.97%)of BRAF V600E mutation,21 cases(3.91%)of NRAS mutation,6 cases(1.12%)of KRAS mutation and 2 cases(0.37%)of HRAS mutation.Among them,there was BRAF V600E and KRAS co-mutation in 1 case.BRAF V600E gene mutation had the correlation with cytological diagnostic results(P<0.05),BRAF V600E mutation was more likely to occur in younger ones(P<0.05),and BRAF V600E mutation was more common in males than in females(P<0.05).KRAS mutat ion was more likely to occur in nodules in the left lobe of the thyroid gland(P<0.05).Con clusion BRAF V600E gene mutation is the most common among thyroid fine needle puncture specimens,and the NRAS mutation is in the majority for RAS gene mutations.