Abstract Topic: 3. Acute myeloid leukemia - Biology & Translational Research
Background: Tumor tissues are known to contain cell-specific genetic variations and gene expression profiles that play a role in the etiology, pathogenesis and treatment outcomes of the diseases. Single-cell sequencing is a powerful tool that has the potential to revolutionize personalized medicine by providing a more detailed and accurate understanding of individual patient biology. Recent advances in high-throughput single-cell sequencing technologies have greatly improved our understanding of complex biological systems.
Aims: However, most current high-throughput single-cell sequencing methods detect only gene expression levels. The information on important genetic variants including mutation or fusion is not captured. To better understand the mechanisms of tumor responses to systematic therapy, it is essential to decipher the connection between genotype and gene expression patterns of both tumor cells and cells in the tumor microenvironment.
Methods: To address this limitation, we have developed FocuSCOPE, a high-throughput multi-omics sequencing solution capable of simultaneously detecting common genetic variants seen in leukemia and transcriptome from single cells thus delivering more comprehensive insights into each individual cell. The FocuSCOPE technology is centered around specifically designed barcoding beads that can effectively capture both transcriptome and the region of interest and the SCOPE-chip®, a portable microfluidic chip that integrates multiple steps of processing workflow which can be operated manually.
Results: Here we used FocuSCOPE on different cell lines to detect druggable TP53, KRAS mutations together with BCR-ABL1 and PML-RARA gene fusions.
Summary/Conclusion: FocuSCOPE can be used to detect genetic variants, fusion genes together with whole transcriptome.
Keywords: BCR-ABL, PML-RAR, Single nucleotide polymorphism, TP53