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Review
. 2022 Jul 13;12(7):1136.
doi: 10.3390/jpm12071136.

Skin Cancer Research Goes Digital: Looking for Biomarkers within the Droplets

Elena-Georgiana Dobre  1 , Carolina Constantin  2   3 , Monica Neagu  1   2   3
Affiliations
Review

Skin Cancer Research Goes Digital: Looking for Biomarkers within the Droplets

Elena-Georgiana Dobre et al. J Pers Med. .

Abstract

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.

Keywords: biomarkers; cutaneous melanoma; ddPCR; immunotherapy; liquid biopsy; personalized medicine; skin cancer; squamous cell carcinoma; targeted therapy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Schematic representation of a ddPCR assay.
Figure 2
Figure 2
Timeline depicting genomic biomarker-driven drug approvals in skin cancer. Except for Imatinib, a small-molecule inhibitor of the KIT tyrosine kinase, and Levantinib, a multi-kinase inhibitor of the vascular endothelial growth factor (VEGF) receptors, which are currently tested in clinical trials for their efficiency when combined with ICIs, all the other drugs have gained FDA approval for use in the clinical setting in skin cancer patients. CTLA-4- Cytotoxic T lymphocyte antigen 4; ICIs- immune checkpoint inhibitors; HH pathway- Hedgehog signaling pathway; SMO- Smoothened, Frizzled Class Receptor; MEK pathway- Mitogen-activated protein kinase kinase pathway; PD-1 receptor- Programmed cell death protein 1; EGFR- Epidermal growth factor receptor; VEGF- Vascular endothelial growth factor; KIT- KIT Proto-Oncogene, Receptor Tyrosine Kinase.
Figure 3
Figure 3
Clinical applications of liquid biopsy in the management of skin cancers.
See this image and copyright information in PMC

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