Characterization of the Thyroid Cancer Genomic Landscape by Plasma-Based Circulating Tumor DNA Next-Generation Sequencing

医学 甲状腺癌 内科学 甲状腺髓样癌 基因组DNA 肿瘤科 甲状腺癌 DNA测序 癌症研究 癌症 突变 生物标志物 甲状腺 生物 DNA 遗传学 基因
作者
Valentina Tarasova,Jill Tsai,Jude Masannat,Juan C. Hernandez Prera,Julie Hallanger‐Johnson,Colleen Veloski,Sarimar Agosto Salgado,Bryan McIver,Leylah Drusbosky,Christine H. Chung
出处
期刊:Thyroid [Mary Ann Liebert, Inc.]
卷期号:34 (2): 197-205 被引量:9
标识
DOI:10.1089/thy.2023.0204
摘要

Background: The limited availability of targeted therapies in thyroid cancer (TC) has challenged conventional treatment algorithms and has established urgency for the identification of targetable genomic abnormalities. In addition to widely adopted tissue-based next-generation sequencing (NGS), plasma-based circulating tumor DNA (ctDNA) NGS is rapidly emerging as a genomic biomarker detection method and is steadily gaining utility across solid tumors. To date, plasma-based genomic alterations in TC have not been determined. Herein, we profile potential actionable mutations detected through ctDNA in patients with TC subtypes. Methods: A retrospective data analysis of the Guardant Health, Inc. database was performed using the commercially available Guardant360® plasma-NGS test on TC samples from adult patients collected between 2016 and 2021. The landscape of genomic alterations and blood tumor mutation burden (bTMB) were analyzed in patients with different types of TC: anaplastic TC (ATC), papillary TC (PTC), follicular TC (FTC), oncolytic carcinoma of the thyroid (OCA), poorly differentiated TC (PDTC), medullary TC (MTC), and TC not otherwise specified (TC NOS). Results: Of the 1094 patients included most of the patients n = 876 had TC NOS, and 20% had a specific diagnosis (92 ATC, 62 PTC, 14 FTC, 16 OCA, 2 PDTC, and 32 MTC patients). The median age was 65 (range 10–98) and 47.3% were male. 78.3% of patients had one or more genomic alteration detected by ctDNA NGS. TP53 (46.9%) was the most common mutation detected among all TC. BRAFV600E was detected in 27.2% of ATC, 35.7% of PTC, and in none of FTC. RAS was detected in 18.5% of ATC, 11.9% of PTC, and 62.5% of FTC. RET, ALK, and NTRK fusions were seen in 1.1%, 0.5%, and 0.2% of all TC, respectively. RET mutations were detected in 66.7% of MTC. bTMB analysis was performed on 159 patients. The mean bTMB was higher in ATC compared with other types of TC (p = 0.0011, 0.0557, and <0.0001, respectively). Conclusions: Plasma-based comprehensive NGS is a promising NGS method in TC; however, future validation of the clinical utility by analysis of paired tumor and plasma samples is needed.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
hbzjt2012完成签到,获得积分0
刚刚
刚刚
zxx完成签到,获得积分10
1秒前
子咸完成签到,获得积分10
2秒前
自然雁兰完成签到,获得积分10
2秒前
3秒前
qqqqqq应助段启瑞采纳,获得10
4秒前
LXXue发布了新的文献求助10
4秒前
wsws发布了新的文献求助10
5秒前
5秒前
7秒前
7秒前
8秒前
hua发布了新的文献求助10
8秒前
共享精神应助aixiaoming0503采纳,获得10
9秒前
9秒前
uuinn完成签到,获得积分10
10秒前
132132zl完成签到,获得积分10
11秒前
赘婿应助天真的紫青采纳,获得10
11秒前
图治完成签到,获得积分10
11秒前
12秒前
Yingling发布了新的文献求助10
12秒前
李金玉发布了新的文献求助10
13秒前
13秒前
李健的小迷弟应助LXXue采纳,获得10
14秒前
Ava应助熊猫文文采纳,获得10
14秒前
凯睿发布了新的文献求助10
15秒前
hyr发布了新的文献求助10
15秒前
wz发布了新的文献求助10
16秒前
18秒前
18秒前
kysl发布了新的文献求助20
19秒前
19秒前
dj完成签到,获得积分10
19秒前
19秒前
19秒前
20秒前
Ava应助1.1采纳,获得10
20秒前
橘枳完成签到 ,获得积分10
20秒前
20秒前
高分求助中
A new approach to the extrapolation of accelerated life test data 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 700
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 500
Nucleophilic substitution in azasydnone-modified dinitroanisoles 500
不知道标题是什么 500
Indomethacinのヒトにおける経皮吸収 400
Phylogenetic study of the order Polydesmida (Myriapoda: Diplopoda) 370
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3976235
求助须知:如何正确求助?哪些是违规求助? 3520399
关于积分的说明 11203166
捐赠科研通 3256989
什么是DOI,文献DOI怎么找? 1798580
邀请新用户注册赠送积分活动 877738
科研通“疑难数据库(出版商)”最低求助积分说明 806516