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循环肿瘤细胞在非小细胞肺癌中用于诊断突变和染色体重排的常规临床应用——已准备好进入黄金时代了吗?

Routine clinical use of circulating tumor cells for diagnosis of mutations and chromosomal rearrangements in non-small cell lung cancer-ready for prime-time?

作者信息

Pailler Emma, Faugeroux Vincent, Oulhen Marianne, Catelain Cyril, Farace Françoise

机构信息

Gustave Roussy, Université Paris-Saclay, "Circulating Tumor Cells" Translational Platform, CNRS UMS3655 - INSERM US23 AMMICA, F-94805, Villejuif, France.

INSERM, U981 "Identification of Molecular Predictors and new Targets for Cancer Treatment", F-94805, Villejuif, France.

出版信息

Transl Lung Cancer Res. 2017 Aug;6(4):444-453. doi: 10.21037/tlcr.2017.07.01.

Abstract

In non-small cell lung cancer (NSCLC), diagnosis of predictive biomarkers for targeted therapies is currently done in small tumor biopsies. However, tumor biopsies can be invasive, in some cases associated with risk, and tissue adequacy, both in terms of quantity and quality is often insufficient. The development of efficient and non-invasive methods to identify genetic alterations is a key challenge which circulating tumor cells (CTCs) have the potential to be exploited for. CTCs are extremely rare and phenotypically diverse, two characteristics that impose technical challenges and impact the success of robust molecular analysis. Here we introduce the clinical needs in this disease that mainly consist of the diagnosis of () activating alterations and () rearrangement. We present the proof-of-concept studies that explore the detection of these genetic alterations in CTCs from NSCLC patients. Finally, we discuss steps that are still required before CTCs are routinely used for diagnosis of -mutations and -rearrangements in this disease.

摘要

在非小细胞肺癌(NSCLC)中,目前针对靶向治疗的预测性生物标志物诊断是在小肿瘤活检中进行的。然而,肿瘤活检可能具有侵入性,在某些情况下存在风险,而且组织的充足性,无论是数量还是质量,往往都不足。开发高效且非侵入性的方法来识别基因改变是一项关键挑战,循环肿瘤细胞(CTC)有潜力被用于此。CTC极其罕见且表型多样,这两个特征带来了技术挑战,并影响了可靠分子分析的成功率。在此,我们介绍该疾病的临床需求,主要包括()激活改变和()重排的诊断。我们展示了探索在NSCLC患者的CTC中检测这些基因改变的概念验证研究。最后,我们讨论在CTC常规用于该疾病的 - 突变和 - 重排诊断之前仍需采取的步骤。

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