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癌症患者的实时液体活检:现实还是虚构?

Real-time liquid biopsy in cancer patients: fact or fiction?

机构信息

Authors' Affiliations: Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; University Medical Centre, Saint-Eloi Hospital, Institute of Research in Biotherapy, Laboratory of Rare Human Circulating Cells, Cell and Tissue Biopathology of Tumors Department; and University Institute of Clinical Research UM1-EA2415-Epidemiology, Biostatistics & Public Health, Montpellier, France.

出版信息

Cancer Res. 2013 Nov 1;73(21):6384-8. doi: 10.1158/0008-5472.CAN-13-2030. Epub 2013 Oct 21.

DOI:10.1158/0008-5472.CAN-13-2030
PMID:24145355
Abstract

Distant metastases harbor unique genomic characteristics not detectable in the corresponding primary tumor of the same patient and metastases located at different sites show a considerable intrapatient heterogeneity. Thus, the mere analysis of the resected primary tumor alone (current standard practice in oncology) or, if possible, even reevaluation of tumor characteristics based on the biopsy of the most accessible metastasis may not reveal sufficient information for treatment decisions. Here, we propose that this dilemma can be solved by a new diagnostic concept: liquid biopsy, that is, analysis of therapeutic targets and drug resistance-conferring gene mutations on circulating tumor cells (CTC) and cell-free circulating tumor DNA (ctDNA) released into the peripheral blood from metastatic deposits. We discuss the current challenges and future perspectives of CTCs and ctDNA as biomarkers in clinical oncology. Both CTCs and ctDNA are interesting complementary technologies that can be used in parallel in future trials assessing new drugs or drug combinations. We postulate that the liquid biopsy concept will contribute to a better understanding and clinical management of drug resistance in patients with cancer.

摘要

远处转移灶具有独特的基因组特征,在同一患者的相应原发肿瘤中无法检测到,而位于不同部位的转移灶显示出相当大的患者内异质性。因此,仅仅分析切除的原发肿瘤(肿瘤学中的当前标准实践),或者如果可能的话,甚至根据最易接近的转移灶的活检重新评估肿瘤特征,可能无法为治疗决策提供足够的信息。在这里,我们提出,这个困境可以通过一个新的诊断概念来解决:液体活检,即分析循环肿瘤细胞(CTC)和从转移灶释放到外周血中的无细胞循环肿瘤 DNA(ctDNA)上的治疗靶点和耐药性赋予基因突变。我们讨论了 CTC 和 ctDNA 作为临床肿瘤学中生物标志物的当前挑战和未来展望。CTC 和 ctDNA 都是有趣的互补技术,可在未来评估新药或药物组合的试验中并行使用。我们假设液体活检概念将有助于更好地理解和管理癌症患者的耐药性。

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