Denis Jérôme Alexandre, Perrier Alexandre, Nectoux Juliette, Lamy Pierre-Jean, Alary Anne-Sophie, Sarafan-Vasseur Nasrin, Henaff Daniel, Busser Benoit, Appay Romain, Pedini Pascal, Romanet Pauline, Taly Valerie, Fina Frederic
Sorbonne Université, Faculté de médecine, Institut universitaire en cancérologie ; Service de biochimie endocrinienne et oncologique, DMU Biogen, Hôpitaux universitaires Pitié-Salpêtrière-Charles Foix, Assistance Publique-Hôpitaux de Paris, AP-HP Sorbonne Université ; Inserm UMR S_938, Centre de recherche de Saint-Antoine, Biologie et thérapeutiques du cancer, Paris, France.
Service de génétique et biologie moléculaires, HUPC Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, AP-HP, Paris, France.
Ann Biol Clin (Paris). 2019 Dec 1;77(6):619-637. doi: 10.1684/abc.2019.1502.
This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and limitations of dPCR for the search of different molecular abnormalities such as point mutations, copy number variants, DNA methylation, RNA analysis and a more innovative application, the single-cell dPCR. This synthesis makes it possible to propose a positioning of the dPCR compared to the other available technologies in a medical laboratory. In a second part, the main current applications of the dPCR will be addressed including the oncology of solid tumors and liquid biopsies, oncohematology and the follow-up of hemopathies treatments by hematopoietic stem cell transplantation. We will also detail non-invasive prenatal diagnosis and diagnosis of mosaic genetic disease, using the example of McCune-Albright syndrome. Several French specialists in the field who have implemented these techniques in their laboratory have written these different examples of applications jointly. In summary, this manuscript offers an up-to-date view of the positioning of dPCR in relation to other existing technologies in order to best meet the expectations of precision medicine.
本综述是法国临床生物学学会工作组提议的数字PCR（dPCR）研讨会的第二部分。本文的第一部分讨论了dPCR在寻找不同分子异常方面的优势和局限性，如点突变、拷贝数变异、DNA甲基化、RNA分析以及一种更具创新性的应用——单细胞dPCR。这一综述使得能够提出dPCR相对于医学实验室中其他可用技术的定位。在第二部分中，将探讨dPCR当前的主要应用，包括实体瘤和液体活检的肿瘤学、血液肿瘤学以及造血干细胞移植对血液病治疗的随访。我们还将以McCune-Albright综合征为例，详细介绍无创产前诊断和嵌合型遗传病的诊断。该领域的几位法国专家在他们的实验室中实施了这些技术，他们共同撰写了这些不同的应用实例。总之，本手稿提供了dPCR相对于其他现有技术定位的最新观点，以便最好地满足精准医学的期望。
