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[乳腺癌液体活检的现状与展望]

[Current situation and prospect of breast cancer liquid biopsy].

作者信息

Zhou B, Xin L, Xu L, Ye J M, Liu Y H

机构信息

Breast Disease Center, Peking University First Hospital, Beijing 100034, China.

出版信息

Zhonghua Wai Ke Za Zhi. 2018 Feb 1;56(2):106-109. doi: 10.3760/cma.j.issn.0529-5815.2018.02.005.

Abstract

Liquid biopsy is a diagnostic approach by analyzing body fluid samples. Peripheral blood is the most common sample. Urine, saliva, pleural effusion and ascites are also used. Now liquid biopsy is mainly used in the area of neoplasm diagnosis and treatment. Compared with traditional tissue biopsy, liquid biopsy is minimally invasive, convenient to sample and easy to repeat. Liquid biopsy mainly includes circulating tumor cells and circulating tumor DNA (ctDNA) detection. Detection of ctDNA requires sensitive and accurate methods. The progression of next-generation sequencing (NGS) and digital PCR promote the process of studies in ctDNA. In 2016, published the result of whole-genome sequencing study of breast cancer. The study found 1 628 mutations of 93 protein-coding genes which may be driver mutations of breast cancer. The result of this study provided a new platform for breast cancer ctDNA studies. In recent years, there were many studies using ctDNA detection to monitor therapeutic effect and guide treatment. NGS is a promising technique in accessing genetic information and guiding targeted therapy. It must be emphasized that ctDNA detection using NGS is still at research stage. It is important to standardize ctDNA detection technique and perform prospective clinical researches. The time is not ripe for using ctDNA detection to guide large-scale breast cancer clinical practice at present.

摘要

液体活检是一种通过分析体液样本的诊断方法。外周血是最常见的样本,尿液、唾液、胸腔积液和腹水也被使用。目前液体活检主要应用于肿瘤诊断和治疗领域。与传统组织活检相比,液体活检具有微创、取样方便且易于重复的特点。液体活检主要包括循环肿瘤细胞和循环肿瘤DNA(ctDNA)检测。ctDNA检测需要灵敏且准确的方法。下一代测序(NGS)和数字PCR的发展推动了ctDNA的研究进程。2016年,发表了乳腺癌全基因组测序研究结果。该研究发现93个蛋白质编码基因的1628个突变可能是乳腺癌的驱动突变。这项研究结果为乳腺癌ctDNA研究提供了一个新平台。近年来,有许多研究使用ctDNA检测来监测治疗效果并指导治疗。NGS在获取遗传信息和指导靶向治疗方面是一项有前景的技术。必须强调的是,使用NGS进行ctDNA检测仍处于研究阶段。规范ctDNA检测技术并开展前瞻性临床研究很重要。目前使用ctDNA检测来指导大规模乳腺癌临床实践的时机尚不成熟。

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