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血液中的循环肿瘤DNA:癌症检测的未来基因组生物标志物。

Circulating tumor DNA in blood: Future genomic biomarkers for cancer detection.

作者信息

Sumbal Sumbal, Javed Aneeqa, Afroze Bakht, Zulfiqar Hafiza Fizzah, Javed Faqeeha, Noreen Sobia, Ijaz Bushra

机构信息

Centre of Excellence in Molecular Biology, University of the Punjab Lahore, Pakistan.

Department of Chemistry, University of Sargodha, Sargodha, Pakistan.

出版信息

Exp Hematol. 2018 Sep;65:17-28. doi: 10.1016/j.exphem.2018.06.003. Epub 2018 Jun 23.

Abstract

Cancer is characterized by Darwinian evolution and is a primary cause of mortality and morbidity around the globe. Over the preceding decade, the treatment of cancer has been markedly improved by many targeted therapies, but these treatments have given birth to new challenges and issues. Clonal evolution and tumor heterogeneity present a significant challenge in designing cancer therapies. Fortunately, these restrictions have been overcome by technological advancements allowing us to track both genetic and epigenetic aberrations. Cell-free circulating tumor DNA (ctDNA) analysis, or "liquid biopsy" from a blood sample, provides the opportunity to track the genetic landscape of cancerous lesions. This review focuses on ctDNA analysis as a noninvasive method and versatile biomarker for cancer treatment and technological advancements for ctDNA analysis. This method may able to cope with all the challenges associated with previous cancer therapies and has the potential to monitor minimal residual disease, tumor burden, and therapy response and provide rapid detection of relapse. However, there are many challenges that still need to be addressed. Future prognosis, diagnosis, and analysis of ctDNA require reproducibility and accuracy of results, which are not possible without the validation and optimization of procedures. Integrated digital error suppression has thus far shown promise in the detection of ctDNA in cancer.

摘要

癌症具有达尔文式进化的特征,是全球范围内死亡和发病的主要原因。在过去十年中,许多靶向治疗显著改善了癌症的治疗效果,但这些治疗也带来了新的挑战和问题。克隆进化和肿瘤异质性在设计癌症治疗方案时构成了重大挑战。幸运的是,技术进步克服了这些限制,使我们能够追踪基因和表观遗传异常。游离循环肿瘤DNA(ctDNA)分析,即从血液样本中进行“液体活检”,为追踪癌性病变的基因图谱提供了机会。本综述重点关注ctDNA分析作为一种用于癌症治疗的非侵入性方法和通用生物标志物,以及ctDNA分析的技术进展。这种方法或许能够应对与先前癌症治疗相关的所有挑战,并有可能监测微小残留病、肿瘤负荷和治疗反应,以及快速检测复发情况。然而,仍有许多挑战需要解决。ctDNA的未来预后、诊断和分析需要结果的可重复性和准确性,而没有程序的验证和优化,这是不可能实现的。迄今为止,集成数字误差抑制在癌症ctDNA检测中已显示出前景。

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