背景:甲状腺癌发病率在全球范围内呈加速增长的趋势。丝氨酸/苏氨酸蛋白激酶(BRAF)V600E基因检测或DNA倍性分析已用于鉴定甲状腺癌类型。本研究旨在评估BRAFV600E基因整合DNA倍体分析在甲状腺癌中的诊断价值。
方法:2022年8月至2023年5月,选取我院甲状腺外科门诊患者400例。根据甲状腺影像报告和数据系统(TI-RADS)将患者分为低危组(Ⅰ+Ⅱ+Ⅲ组,n=200)和高危组(Ⅳ+Ⅴ组,n=200)。总共对患者进行了DNA倍性分析,BRAFV600E基因检测,或者两种技术的结合。我们评估了上述技术的诊断价值,并将术后病理结果视为癌症诊断的金标准。阴性预测值(NPV),准确度,特异性,灵敏度,TI-RADS的阳性预测值(PPV),BRAFV600E基因检测,DNA倍性分析,计算BRAFV600E基因检测与DNA倍体分析。
结果:在400名受试者中,238例甲状腺癌,162例良性病变,根据术后病理结果。获得的灵敏度,特异性,准确度,PPV,TI-RADS的NPV值为55.88%,58.64%,57.00%,66.50%,47.50%,BRAFV600E基因检测分别为81.93%,69.75%,77.00%,79.92%,72.44%,DNA倍体分析分别为83.19%,72.84%,79.00%,81.82%,74.68%,BRAFV600E基因结合DNA倍体分析分别为90.34%,76.54%,84.75%,84.98%,84.35%,分别。与TI-RADS相比,灵敏度,特异性,准确度,PPV,和DNA倍体分析的NPV值,BRAFV600E基因检测,最后两种方法的结合增加(p<0.05)。其中DNA倍体分析和BRAFV600E基因检测的组合值最高。
结论:BRAFV600E基因检测结合DNA倍体分析显示出比两种方法单独或TI-RADS更好的诊断价值。
BACKGROUND: The thyroid cancer incidence has been experimenting an accelerated growth all over the world. The serine/threonine-protein kinase (BRAF) V600E gene detection or the DNA ploidy analysis has been employed in the identification of thyroid cancer type. This study aimed to evaluate the diagnostic value of the BRAF V600E gene integrated with DNA ploidy analysis in thyroid cancer.
METHODS: From August 2022 to May 2023, 400 individuals from the thyroid surgery outpatient department of our hospital were enrolled in this study. The participants were divided into low-risk groups (Ⅰ+Ⅱ+Ⅲ group; n = 200) and high-risk groups (Ⅳ+Ⅴ group; n = 200) based on the Thyroid Imaging Reporting and Data System (TI-RADS). A total of the patients were subjected to the DNA ploidy analysis, the BRAF V600E gene detection, or the combination of both techniques. We evaluated the diagnostic value of the above techniques and considered the postoperative pathology results as gold standard for cancer diagnosis. The negative predictive value (NPV), accuracy, specificity, sensitivity, and positive predictive value (PPV) of TI-RADS, BRAF V600E gene detection, DNA ploidy analysis, and BRAF V600E gene detection joined with DNA ploidy analysis were calculated.
RESULTS: Among 400 subjects, 238 presented thyroid cancer and 162 had benign lesions, according to the postoperative pathology results. The obtained sensitivity, specificity, accuracy, PPV, and NPV values of TI-RADS were 55.88%, 58.64%, 57.00%, 66.50%, 47.50%, respectively; of BRAF V600E gene detection were 81.93%, 69.75%, 77.00%, 79.92%, 72.44%, respectively; of DNA ploidy analysis were 83.19%, 72.84%, 79.00%, 81.82%, 74.68%, respectively; of BRAF V600E gene combined with DNA ploidy analysis were 90.34%, 76.54%, 84.75%, 84.98%, 84.35%, respectively. Compared with TI-RADS, the sensitivity, specificity, accuracy, PPV, and NPV values of DNA ploidy analysis, BRAF V600E gene detection, and the conjunction of these last two methods were increased (p < 0.05). The combination of DNA ploidy analysis and BRAF V600E gene detection had the highest values among them all.
CONCLUSIONS: BRAF V600E gene detection in conjunction with DNA ploidy analysis showed a better diagnostic value than both methods separately or TI-RADS.