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用于妇科癌症管理的循环肿瘤DNA评估

[Circulating tumor DNA assessment for gynaecological cancers management].

作者信息

Mari Roxane, Lambaudie Éric, Provansal Magali, Sabatier Renaud

机构信息

Aix-Marseille university, CNRS U7258, Inserm U1068, institut Paoli-Calmettes, département d'oncologie médicale, CRCM, Marseille cedex 9, France.

Aix-Marseille university, CNRS U7258, Inserm U1068, institut Paoli-Calmettes, département de chirurgie oncologique, CRCM, Marseille cedex 9, France; Aix-Marseille university, CNRS U7258, Inserm U1068, institut Paoli-Calmettes, CRCM, laboratoire d'oncologie prédictive, Marseille cedex 9, France.

出版信息

Bull Cancer. 2019 Mar;106(3):237-252. doi: 10.1016/j.bulcan.2018.11.018. Epub 2019 Feb 11.

Abstract

Gynaecological cancers are frequent, with more than 16,000 cases per year in France for 6500 deaths. Few improvements in diagnostic methods, prognostic tools, and therapeutic strategies have occurred in the last two decades. Tumour genomic analyses from, at least in part, the Cancer Genome Atlas have identified some of the molecular alterations involved in gynaecological tumours growth and spreading. However, these data remain incomplete and have not led to dramatic changes in the clinical management of our patients. Moreover, they require invasive samples that are not suitable to objectives like screening/early diagnosis, assessment of treatment efficacy, monitoring of residual disease or early diagnosis of relapse. In the last years, the analysis of circulating tumour biomarkers (also called "liquid biopsies") based on tumour cells (circulating tumour cells) or tumour nucleotides (circulating DNA or RNA) has been massively explored through various indications, platforms, objectives; data related to circulating tumour DNA being the most important in terms of number of publications and interest for clinical practice. This review aims to describe the methods of analysis as well as the observations from the analysis of circulating tumour DNA in gynaecological tumours, from screening/early diagnosis to the adaptation of treatment for advanced stages, through choice of treatments and monitoring of subclinical disease.

摘要

妇科癌症很常见,在法国每年有超过16000例病例,其中6500人死亡。在过去二十年中,诊断方法、预后工具和治疗策略几乎没有改进。至少部分来自癌症基因组图谱的肿瘤基因组分析已经确定了一些参与妇科肿瘤生长和扩散的分子改变。然而,这些数据仍然不完整,并没有导致我们患者临床管理的显著变化。此外,它们需要侵入性样本,这不适合用于筛查/早期诊断、治疗效果评估、残留疾病监测或复发早期诊断等目标。在过去几年中,基于肿瘤细胞(循环肿瘤细胞)或肿瘤核苷酸(循环DNA或RNA)的循环肿瘤生物标志物分析(也称为“液体活检”)已经通过各种适应症、平台和目标进行了大量探索;就出版物数量和临床实践兴趣而言,与循环肿瘤DNA相关的数据最为重要。本综述旨在描述分析方法以及妇科肿瘤中循环肿瘤DNA分析的观察结果,从筛查/早期诊断到晚期治疗的调整,包括治疗选择和亚临床疾病监测。

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