Prognostication with circulating tumor DNA: is it ready for prime time?
Prognostication with circulating tumor DNA: is it ready for prime time?
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DOI：
10.1182/hematology.2019000013
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发表时间：
2019-12-01
影响因子：
3
通讯作者：
Kurtz, David M.
中科院分区：
文献类型：
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作者：
Kurtz, David M.
检测淋巴瘤患者血浆中肿瘤衍生DNA的新兴方法-所谓的“循环肿瘤DNA”（ctDNA）-有可能改变淋巴瘤在临床上的诊断和管理方式。ctDNA的可能应用有很多，包括突变基因分型、反应监测和放射学缓解期间微小残留病的检测。本文讨论了侵袭性B细胞淋巴瘤中ctDNA的检测方法，包括数字聚合酶链反应、免疫球蛋白受体靶向测序和靶向下一代测序。这些方法的优点也进行了比较，重点是有前途的临床应用。这些包括从治疗前血浆中鉴定分子亚型（例如，来源细胞和双重打击淋巴瘤），初始疗程后的分子缓解预测，以及在临床复发前早期检测复发性疾病。最后，本文讨论了当今在临床中实施ctDNA检测的挑战，包括这些挑战的可能解决方案。
Emerging methods to detect tumor-derived DNA in the blood plasma of patients with lymphomas-so-called "circulating tumor DNA" (ctDNA)-have the potential to change the way in which lymphoma is diagnosed and managed in the clinic. The possible applications for ctDNA are numerous, including mutation genotyping, response monitoring, and detection of minimal residual disease during a time of radiographic remission. This article discusses the methodology for detecting ctDNA in aggressive B-cell lymphomas, including digital polymerase chain reaction, targeted sequencing of immunoglobulin receptors, and targeted next-generation sequencing. The advantages of each of these methods are also compared, with a focus on promising clinical applications. These include identification of molecular subtypes (eg, cell-of-origin and double-hit lymphomas) from pretreatment plasma, molecular response prediction after an initial course of therapy, and early detection of relapsing disease prior to clinical relapse. Finally, this article discusses the challenges in implementing ctDNA assays in the clinic today, including possible solutions to these challenges.