Caen Ouriel, Nizard Philippe, Garrigou Sonia, Perez-Toralla Karla, Zonta Eleonora, Laurent-Puig Pierre, Taly Valérie
Université Paris Sorbonne Cité, Inserm UMR-S1147, 45, rue des Saints-Pères, 75270, Paris, France.
Université Paris Sorbonne Cité, Inserm UMR-S1147, 45, rue des Saints-Pères, 75270, Paris, France - Département de biologie, hôpital européen Georges Pompidou, AP-HP, Paris, France.
Med Sci (Paris). 2015 Feb;31(2):180-6. doi: 10.1051/medsci/20153102015. Epub 2015 Mar 4.
Genetic markers are now widely used in the clinics, particularly in cancer patient management. Indeed, these tumor markers can help in the diagnosis and prognosis of the disease, and provide valuable information for treatment orientation in the context of personalized medicine. The presence of circulating cell-free tumor DNA (cftDNA) and thus of tumor markers in the blood can be considered to partly avoid the use of solid biopsies. The use of blood samples, as liquid biopsies, is less invasive and described as more representative of tumor heterogeneity. However, cftDNA can be found in blood in low proportion that can vary according to the nature and the progression of the tumor. For these reasons, the use of highly sensitive, specific and ideally quantitative methods for its detection are required. These requirements constituted until recently a technological limit, which now can be overcome thanks to digital PCR. This technology could now become a very efficient and non-invasive tool in oncology, complementary to conventional diagnostic techniques.
基因标志物目前在临床上得到广泛应用，尤其是在癌症患者管理方面。事实上，这些肿瘤标志物有助于疾病的诊断和预后评估，并在个性化医疗背景下为治疗导向提供有价值的信息。血液中循环游离肿瘤DNA（cftDNA）以及肿瘤标志物的存在可被视为部分避免了实体活检的使用。作为液体活检的血液样本使用起来侵入性较小，并且被认为更能代表肿瘤异质性。然而，cftDNA在血液中的比例较低，且会因肿瘤的性质和进展而有所不同。由于这些原因，需要使用高灵敏度、高特异性且理想情况下可定量的方法来检测它。直到最近，这些要求一直是技术上的限制，但现在借助数字PCR可以克服这一限制。这项技术现在可能成为肿瘤学中一种非常高效且非侵入性的工具，作为传统诊断技术的补充。
