通过基于等离子体的循环瘤DNA下一代测序来描述甲状腺癌基因组景观
Valentina D Tarasova1, Jill Tsai2, Jude Masannat2
1Department of Head and Neck-Endocrine Oncology, Moffitt Cancer Center, Tampa, Florida, USA.
Thyroid : official journal of the American Thyroid Association
|November 14, 2023
概括
基于等离子体的下一代测序 (NGS) 在78.3%的甲状腺癌 (TC) 患者中发现了基因组变化. 这种方法对检测各种TC亚型中的可操作突变具有前景,有助于向治疗的开发.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子诊断学 分子诊断
背景情况:
- 甲状腺癌 (TC) 的有限的向治疗需要确定新的治疗点.
- 基于等离子体的循环瘤DNA (ctDNA) 下一代测序 (NGS) 是一种新兴的工具,用于检测固体瘤中的基因组生物标志物.
- 使用基于等离子体的ctDNA在TC的基因组变化以前没有被表征.
研究的目的:
- 在患有不同类型甲状腺癌亚型的患者中通过ctDNA检测到的可操作突变进行分析.
- 在各种TC类型中分析基因组改变和血液瘤突变负担 (bTMB) 的景观.
主要方法:
- 对Guardant Health, Inc.数据库 (2016-2021) 的回顾性分析.
- 在1094名成年TC患者的样本上使用了Guardant360®血-NGS测试.
- 分析了不同TC亚型的基因组变化和bTMB:形TC (ATC),乳头TC (PTC),卵泡TC (FTC),甲状腺癌 (OCA),差异化TC (PDTC),骨髓TC (MTC) 和其他未指定的TC (NOS).
主要成果:
- 78.3%的患者表现出至少一种由ctDNA NGS检测到的基因组变异.
- 在所有TC类型中,TP53 (46.9%) 是最常见的突变.
- 确定了特定的突变:ATC中的BRAF (27.2%) 和PTC (35.7%);FTC中的RAS (62.5%);MTC中的RET突变 (66.7%).
- 在低频率 (分别为1.1%,0.5%,0.2%) 检测到RET,ALK和NTRK的融合.
- 与其他TC类型相比,ATC的平均bTMB显著高于ATC.
结论:
- 基于等离子体的综合NGS是甲状腺癌基因组分析的一个有前途的方法.
- 这种方法可以检测各种TC亚型的可操作突变.
- 需要使用结合的瘤和血样本进行进一步的验证,以确认临床效用.
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