Liquid biopsy in lymphoma: Molecular methods and clinical applications.
Liquid biopsy in lymphoma: Molecular methods and clinical applications.
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淋巴瘤液体活检：分子方法和临床应用。
DOI：
10.1016/j.ctrv.2020.102106
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发表时间：
2020-12
影响因子：
11.8
通讯作者：
Kurtz DM
中科院分区：
文献类型：
--
作者：
Cirillo M;Craig AFM;Borchmann S;Kurtz DM
在本文中，我们广泛回顾了 cfDNA 分析在淋巴瘤诊断和治疗中的应用。我们介绍了 cfDNA 测量相对于传统组织活检的优势，并描述了如何利用 cfDNA 进行基因分型和微小残留病检测。首先，我们讨论基因分型，首先从识别血浆与循环细胞突变的差异开始。我们回顾了基于 PCR 和 NGS 的检测之间的技术区别，并描述了基于 NGS 的 cfDNA 检测的两个重要应用，即耐药突变的识别和疾病亚型的分类。我们讨论了低肿瘤细胞负荷疾病基因分型的困难以及 cfDNA 检测在这些背景下的应用。其次，我们描述了 ctDNA 测量在评估 MRD 中的效用。我们介绍了治疗前疾病负担作为预后生物标志物的评估、治疗分子反应检测以及复发性疾病早期检测的最新进展。第三，我们探索了 ctDNA 技术的一些新兴研究领域，这些领域有望提高现有基于 ctDNA 的检测的性能。其中包括无细胞 DNA 片段结构分析或“片段组学”、表观遗传修饰和新型循环分析物，例如肿瘤培养的血小板和细胞外囊泡 DNA。我们还讨论了用于肿瘤检测的血浆替代分析物，例如尿液、唾液和粪便。最后，我们提出了一个案例，强调了 ctDNA 方法在淋巴瘤患者治疗中的潜在应用，同时还定义了在完全实现这一点之前的重要先决条件进展。我们最后展望了 cfDNA 应用的未来，概述了一个潜在的时间表和常规临床应用的前进道路。
In this article, we broadly review the application of cfDNA analysis to the diagnosis and management of lymphoma. We introduce the advantages of cfDNA measurement over conventional tissue biopsy and describe how cfDNA may be utilized for both genotyping and detection of minimal residual disease. First, we discuss genotyping, beginning with differences in identifying mutations from the blood plasma vs. from circulating cells. We review the technical distinctions between PCR- and NGS-based assays and describe two important applications of NGS-based cfDNA tests, namely the identification of resistance mutations and classification of disease subtype. We discuss difficulties in genotyping diseases with low burden of tumor cells and the application of cfDNA assays in these contexts. Second, we describe the utility of ctDNA measurement in assessing MRD. We cover recent advances in the assessment of pre-treatment disease burden as a prognostic biomarker, detection of molecular response to therapy, and early detection of relapsing disease. Third, we explore select emerging areas of research in ctDNA technologies that show promise in boosting the performance of existing ctDNA-based assays. These include cell-free DNA fragment structure analysis or ‘fragmentomics’, epigenetic modifications, and novel circulating analytes such as tumor-educated platelets and extracellular vesicular DNA. We also discuss alternative analytes to blood plasma for tumor detection, such as urine, saliva, and stool. Finally, we present a case that highlights potential applications of ctDNA approaches to the management of patients with lymphoma, while also defining important prerequisite advances before this can be fully realized. We close with a look to the future of cfDNA applications, outlining one potential timeline and path forward towards routine clinical application.
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影响因子：
82.9
作者：
Chapuy B;Stewart C;Dunford AJ;Kim J;Kamburov A;Redd RA;Lawrence MS;Roemer MGM;Li AJ;Ziepert M;Staiger AM;Wala JA;Ducar MD;Leshchiner I;Rheinbay E;Taylor-Weiner A;Coughlin CA;Hess JM;Pedamallu CS;Livitz D;Rosebrock D;Rosenberg M;Tracy AA;Horn H;van Hummelen P;Feldman AL;Link BK;Novak AJ;Cerhan JR;Habermann TM;Siebert R;Rosenwald A;Thorner AR;Meyerson ML;Golub TR;Beroukhim R;Wulf GG;Ott G;Rodig SJ;Monti S;Neuberg DS;Loeffler M;Pfreundschuh M;Trümper L;Getz G;Shipp MA
通讯作者：
Shipp MA
影响因子：
64.8
作者：
Alizadeh, AA;Eisen, MB;Staudt, LM
通讯作者：
Staudt, LM
影响因子：
9.3
作者：
Chan, KCA;Zhang, J;Lo, YMD
通讯作者：
Lo, YMD
影响因子：
2.7
作者：
Chandrananda D;Thorne NP;Bahlo M
通讯作者：
Bahlo M
DOI：
10.1111/j.1752-8062.2010.00226.x
发表时间：
2010-10
期刊：
Clinical and translational science
影响因子：
--
作者：
Calverley DC;Phang TL;Choudhury QG;Gao B;Oton AB;Weyant MJ;Geraci MW
通讯作者：
Geraci MW