Objective:To analyze the clinical significance of multigene assay in papillary thyroid carcinoma(PTC). Methods:Patients who underwent thyroidectomy in a tertiary hospital from August 2021 to May 2022 were enrolled. The eight-gene panel was used to detect the tumor tissue of patients, and the correlation between gene mutations and clinical features was analyzed. Results:Among 161 patients, mutation rate of BRAF V600E, RET/PTC1 and TERT promotor were 82.0%, 6.8% and 4.3%, respectively. BRAF V600E mutation was more common in male patients(P=0.023). TERT promotor-mutated tumors had a large diameter(P=0.019), a high proportion of multifocal lesions(P=0.050), and a large number of lymph node metastases(P=0.031). Among 89 patients who completed preoperative BRAF detection, there was a strong consistency between the preoperative aspiration test and postoperative panel(Cohen κ=0.694, 95%CI: 0.482-0.906, P<0.01). In the hematoxylin-eosin sections obtained from 80 patients, BRAF V600E was still the main type of gene mutation, and the classical/follicular type was more distributed. TERT promotor and RET/PTC1 mutation were the main genetic events for tall-cell/columnar/hobnail type and diffuse sclerosing type, respectively. One-way ANOVA showed that there were differences in diagnosis age(P=0.029) and tumor size(P<0.01) among different pathological types. Conclusion:As a simple and feasible clinical detection method for PTC, the multigene assay can supplement the identification of important genetic events other than BRAF V600E, and provide more prognostic information and follow-up hints for postoperative patients.
目的:分析甲状腺乳头状癌(papillary thyroid carcinoma,PTC)多基因检测结果与临床特征的关系。 方法:纳入2021年8月-2022年5月在上海交通大学医学院附属仁济医院接受甲状腺切除手术的患者,使用8基因试剂盒检测肿瘤组织,分析基因突变与病例特征的相关性。 结果:161例患者中BRAF V600E、RET/PTC1和TERT启动子突变比例分别为82.0%、6.8%和4.3%,BRAF V600E突变常见于男性患者(P=0.023),TERT启动子突变肿瘤直径大(P=0.019)、多灶性比例高(P=0.050)、淋巴结转移多(P=0.031)。在89例完成术前穿刺BRAF V600E检测的患者中,术前穿刺检测与术后试剂盒检测结果具有较强一致性(Cohen κ=0.694,95%CI:0.482~0.906,P<0.01)。观察获得苏木精-伊红染色切片的80例患者,基因突变类型以BRAF V600E为主,经典或滤泡型分布较多,TERT启动子突变和RET/PTC1融合则分别以高细胞/柱状/靴钉型和弥漫硬化型为主要病理亚型。单因素方差分析显示不同病理亚型间的患病年龄(P=0.029)和肿瘤直径(P<0.01)存在差异。 结论:多基因试剂盒作为一种简便易行的PTC临床检测手段,能够补充识别BRAF V600E点突变以外的重要基因事件,为术后患者提供更多预后信息及随访提示。.
Keywords: multigene assay; papillary thyroid carcinoma; pathological characteristics.
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