首页|二代测序技术检测442例甲状腺乳头状癌基因突变及其临床病理学特征

二代测序技术检测442例甲状腺乳头状癌基因突变及其临床病理学特征

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目的 探讨甲状腺乳头状癌(PTC)基因改变及其与临床病理学特征的关系.方法 通过二代测序技术对442例PTC患者进行基因检测,同时收集患者的临床病理学资料.结果 ①442例PTC患者中,423例患者检出基因突变,其中BRAF(385例)、RET(24例)、KRAS(5例)、NTRK3(3例)、NTRK1(3例);②BRAF基因突变仅与肿瘤最大径相关(P=0.006);③V600E突变丰度与性别、肿瘤最大径、肿瘤单/双侧、腺外侵犯、淋巴结转移、组织学亚型(P均<0.05)相关;④V600E不同突变丰度与肿瘤最大径、癌灶分布、腺外侵犯、淋巴结转移、组织学亚型(P均<0.05)相关.结论 应用NGS技术可以明确PTC各驱动基因变异的独特特征,此外BRAF基因V600E突变与多项高危的临床病理学特征相关.
Detection of gene mutations and clinical pathological characteristics in 442 cases of papillary thyroid carcinoma by Next-Generation Sequencing
Objective To investigate the genetic changes in papillary thyroid carcinoma(PTC)and their relationship with clinical pathological features.Methods Next-Generation Sequencing was used to conduct Genetic testing in 442 patients with PTC,and the clinicopathological data of the patients were collected at the same time.Results 1.Among the 442 PTC patients,423 patients detected gene mutations,including BRAF(385 cases),RET(24 cases),KRAS(5 cases),NTRK3(3 cases)and NTRK1(3 cases).2.BRAF mutations were only associated with the maximum diameter of the tumor(P=0.006).3.The abundance of V600E mutations was correlated with gender,maximum tumor diameter,single/bilateral tumor,extraglandular invasion,lymph node metastasis,and histological subtypes(all P<0.05).4.The abundance of different mutations in V600E is correlated with the maximum diameter of the tumor,distribution of cancer foci,extraglandular invasion,lymph node metastasis,and histological subtypes(all P<0.05).Conclusion The application of NGS can clarify the unique characteristics of PTC driver gene mutations,and BRAF V600E mutation is associated with multiple high-risk clinical pathological features.

Papillary thyroid carcinomaNext-generation sequencingGene mutationBRAF

施栋梁、姚梅宏、吴丹、黄达妮、陈醉、郑宇辉、杨映红

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福建医科大学附属协和医院病理科,福州 350001

甲状腺乳头状癌 二代测序 基因突变 BRAF

福建医科大学附属协和医院重点学科项目

2024

诊断病理学杂志
北京军区总医院

诊断病理学杂志

CSTPCD
影响因子:0.663
ISSN:1007-8096
年,卷(期):2024.31(2)
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