[甲状腺乳头状癌多基因检测的临床意义]。

Q4 Medicine
Yuan Shi, Kai Qian, Kai Guo, Jun Liu, Zhuoying Wang
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引用次数: 0

摘要

目的:分析多基因检测在甲状腺乳头状癌(PTC)中的临床意义。方法:以2021年8月至2022年5月在某三甲医院接受甲状腺切除术的患者为研究对象。采用八基因面板检测患者的肿瘤组织,分析基因突变与临床特征的相关性。结果:在161名患者中,BRAF V600E、RET/PTC1和TERT启动子的突变率分别为82.0%、6.8%和4.3%。BRAF V600E突变在男性患者中更为常见(P=0.023)。TERT启动子突变的肿瘤直径大(P=0.019),多灶性病变比例高(P=0.050),淋巴结转移多(P=0.031)。在完成术前BRAF检测的89例患者中,术前抽吸检测与术后Panel检测结果具有较强的一致性(Cohen κ=0.694,95%CI:0.482-0.906,PBRAF V600E仍是主要的基因突变类型,经典/滤泡型分布较多。TERT启动子和RET/PTC1突变分别是高细胞/柱状/蹄甲型和弥漫硬化型的主要遗传事件。单因素方差分析显示,诊断年龄(P=0.029)和肿瘤大小(PCclusion)存在差异。结论:多基因检测作为一种简便可行的PTC临床检测方法,可以补充鉴定BRAF V600E以外的重要遗传事件,为术后患者提供更多预后信息和随访提示。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Clinical significance of multigene assay in papillary thyroid carcinoma].

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.

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