Plasma Cell-Free DNA Genotyping: From an Emerging Concept to a Standard-of-Care Tool in Metastatic Non-Small Cell Lung Cancer.
Plasma Cell-Free DNA Genotyping: From an Emerging Concept to a Standard-of-Care Tool in Metastatic Non-Small Cell Lung Cancer.
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DOI：
10.1002/onco.13889
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发表时间：
2021-10
期刊：
影响因子：
--
通讯作者：
Aggarwal C
中科院分区：
文献类型：
--
作者：
Gray J;Thompson JC;Carpenter EL;Elkhouly E;Aggarwal C
血浆游离 DNA (cfDNA) 基因分型是组织基因分型的替代方案，特别是在组织样本不足或无法获得的情况下，并提供可用于指导非小细胞肺癌 (NSCLC) 患者治疗决策的关键信息。在本文中，我们回顾了血浆 cfDNA 基因分型从一个新兴概念、通过分析方法的发展，到其作为 NSCLC 标准护理工具的临床应用的演变。建议在 NSCLC 中进行检测的驱动突变或耐药突变数量持续增加。由于治疗相关变异的列表不断扩大，与进行连续单基因检测相比，在单次运行中研究多个基因的更大区域的综合测试通常更可取，并且可以节省时间和成本。核酸新一代测序的最新进展导致 cfDNA 基因分型技术迅速扩展。已获得监管部门批准的分析检测现在通常用作转移性非小细胞肺癌的诊断伴随。随着对血浆技术需求的增加，预计未来会有更多监管部门批准 cfDNA 基因分型检测。血浆 cfDNA 基因分型目前通过促进患者与靶向治疗的匹配以及监测 NSCLC 治疗耐药的出现，帮助肿瘤学家提供个性化护理。目前正在进行的进一步提高检测灵敏度和特异性的进展将有可能扩大血浆 cfDNA 基因分型在早期癌症检测、监测治疗反应、检测微小残留病以及测量 NSCLC 肿瘤突变负荷中的应用。血浆游离 DNA (cfDNA) 基因分型提供了组织基因分型的替代方案，特别是当组织样本不足或无法获得时。 cfDNA 基因分型技术的进步催生了分析测定，这些测定现在通常用于帮助肿瘤学家通过促进患者与靶向治疗的匹配和监测治疗耐药性的出现来提供个性化护理。提高检测灵敏度和特异性的进一步进展将有可能扩大血浆 cfDNA 基因分型在早期癌症检测、治疗反应监测、微小残留病检测以及非小细胞肺癌肿瘤突变负荷评估中的应用。本文回顾了血浆游离 DNA 基因分型从一个新兴概念、通过分析方法的发展，到其作为非小细胞肺癌标准护理工具的临床应用的演变。
Plasma cell‐free DNA (cfDNA) genotyping is an alternative to tissue genotyping, particularly when tissue specimens are insufficient or unavailable, and provides critical information that can be used to guide treatment decisions in managing patients with non‐small cell lung cancer (NSCLC). In this article, we review the evolution of plasma cfDNA genotyping from an emerging concept, through development of analytical methods, to its clinical applications as a standard‐of‐care tool in NSCLC. The number of driver or resistance mutations recommended for testing in NSCLC continues to increase. Because of the expanding list of therapeutically relevant variants, comprehensive testing to investigate larger regions of multiple genes in a single run is often preferable and saves on time and cost, compared with performing serial single‐gene assays. Recent advances in nucleic acid next‐generation sequencing have led to a rapid expansion in cfDNA genotyping technologies. Analytic assays that have received regulatory approval are now routinely used as diagnostic companions in the setting of metastatic NSCLC. As the demand for plasma‐based technologies increases, more regulatory approvals of cfDNA genotyping assays are expected in the future. Plasma cfDNA genotyping is currently aiding oncologists in the delivery of personalized care by facilitating matching of patients with targeted therapy and monitoring emergence of resistance to therapy in NSCLC. Further advances currently underway to increase assay sensitivity and specificity will potentially expand the use of plasma cfDNA genotyping in early cancer detection, monitoring response to therapy, detection of minimal residual disease, and measurement of tumor mutational burden in NSCLC. Plasma cell‐free DNA (cfDNA) genotyping offers an alternative to tissue genotyping, particularly when tissue specimens are insufficient or unavailable. Advances in cfDNA genotyping technologies have led to analytic assays that are now routinely used to aid oncologists in the delivery of personalized care by facilitating matching of patients with targeted therapy and monitoring emergence of resistance to therapy. Further advances underway to increase assay sensitivity and specificity will potentially expand the use of plasma cfDNA genotyping in early cancer detection, monitoring response to therapy, detection of minimal residual disease, and evaluation of tumor mutational burden in non‐small cell lung cancer. This article reviews the evolution of plasma cell‐free DNA genotyping from an emerging concept, through development of analytical methods, to its clinical applications as a standard‐of‐care tool in non‐small cell lung cancer.
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影响因子：
9.8
作者：
Acuna-Hidalgo, Rocio;Sengul, Hilal;Hoischen, Alexander
通讯作者：
Hoischen, Alexander
影响因子：
28.4
作者：
Aggarwal, Charu;Thompson, Jeffrey C.;Carpenter, Erica L.
通讯作者：
Carpenter, Erica L.
影响因子：
64.8
作者：
Abbosh C;Birkbak NJ;Wilson GA;Jamal-Hanjani M;Constantin T;Salari R;Le Quesne J;Moore DA;Veeriah S;Rosenthal R;Marafioti T;Kirkizlar E;Watkins TBK;McGranahan N;Ward S;Martinson L;Riley J;Fraioli F;Al Bakir M;Grönroos E;Zambrana F;Endozo R;Bi WL;Fennessy FM;Sponer N;Johnson D;Laycock J;Shafi S;Czyzewska-Khan J;Rowan A;Chambers T;Matthews N;Turajlic S;Hiley C;Lee SM;Forster MD;Ahmad T;Falzon M;Borg E;Lawrence D;Hayward M;Kolvekar S;Panagiotopoulos N;Janes SM;Thakrar R;Ahmed A;Blackhall F;Summers Y;Hafez D;Naik A;Ganguly A;Kareht S;Shah R;Joseph L;Marie Quinn A;Crosbie PA;Naidu B;Middleton G;Langman G;Trotter S;Nicolson M;Remmen H;Kerr K;Chetty M;Gomersall L;Fennell DA;Nakas A;Rathinam S;Anand G;Khan S;Russell P;Ezhil V;Ismail B;Irvin-Sellers M;Prakash V;Lester JF;Kornaszewska M;Attanoos R;Adams H;Davies H;Oukrif D;Akarca AU;Hartley JA;Lowe HL;Lock S;Iles N;Bell H;Ngai Y;Elgar G;Szallasi Z;Schwarz RF;Herrero J;Stewart A;Quezada SA;Peggs KS;Van Loo P;Dive C;Lin CJ;Rabinowitz M;Aerts HJWL;Hackshaw A;Shaw JA;Zimmermann BG;TRACERx consortium;PEACE consortium;Swanton C
通讯作者：
Swanton C
影响因子：
78.8
作者：
Abbosh, Christopher;Birkbak, Nicolai J.;Swanton, Charles
通讯作者：
Swanton, Charles
影响因子：
28.2
作者：
Haber DA;Velculescu VE
通讯作者：
Velculescu VE