Dobre Elena-Georgiana, Constantin Carolina, Neagu Monica
Faculty of Biology, University of Bucharest, Splaiul Independentei 91-95, 050095 Bucharest, Romania.
Immunology Department, "Victor Babes" National Institute of Pathology, 050096 Bucharest, Romania.
J Pers Med. 2022 Jul 13;12(7):1136. doi: 10.3390/jpm12071136.
Skin cancer, which includes the most frequent malignant non-melanoma carcinomas (basal cell carcinoma, BCC, and squamous cell carcinoma, SCC), along with the difficult to treat cutaneous melanoma (CM), pose important worldwide issues for the health care system. Despite the improved anti-cancer armamentarium and the latest scientific achievements, many skin cancer patients fail to respond to therapies, due to the remarkable heterogeneity of cutaneous tumors, calling for even more sophisticated biomarker discovery and patient monitoring approaches. Droplet digital polymerase chain reaction (ddPCR), a robust method for detecting and quantifying low-abundance nucleic acids, has recently emerged as a powerful technology for skin cancer analysis in tissue and liquid biopsies (LBs). The ddPCR method, being capable of analyzing various biological samples, has proved to be efficient in studying variations in gene sequences, including copy number variations (CNVs) and point mutations, DNA methylation, circulatory miRNome, and transcriptome dynamics. Moreover, ddPCR can be designed as a dynamic platform for individualized cancer detection and monitoring therapy efficacy. Here, we present the latest scientific studies applying ddPCR in dermato-oncology, highlighting the potential of this technology for skin cancer biomarker discovery and validation in the context of personalized medicine. The benefits and challenges associated with ddPCR implementation in the clinical setting, mainly when analyzing LBs, are also discussed.
皮肤癌,包括最常见的恶性非黑色素瘤癌(基底细胞癌,BCC,和鳞状细胞癌,SCC),以及难以治疗的皮肤黑色素瘤(CM),给全球医疗保健系统带来了重要问题。尽管抗癌手段有所改进且取得了最新科学成果,但由于皮肤肿瘤具有显著的异质性,许多皮肤癌患者对治疗没有反应,这就需要更复杂的生物标志物发现和患者监测方法。液滴数字聚合酶链反应(ddPCR)是一种检测和定量低丰度核酸的可靠方法,最近已成为组织和液体活检(LB)中皮肤癌分析的强大技术。ddPCR方法能够分析各种生物样本,已被证明在研究基因序列变异方面很有效,包括拷贝数变异(CNV)和点突变、DNA甲基化、循环miRNome和转录组动力学。此外,ddPCR可设计为个性化癌症检测和监测治疗效果的动态平台。在此,我们展示了在皮肤肿瘤学中应用ddPCR的最新科学研究,突出了该技术在个性化医学背景下用于皮肤癌生物标志物发现和验证的潜力。还讨论了在临床环境中实施ddPCR,主要是在分析LB时,所带来的益处和挑战。