Accepted_test

Analysis of single-cell transcriptomics data using the example of cancer diseases
by Иконников Александр Владимирович | НИИ Молекулярной и клеточной медицины МИ РУДН, Москва, Россия
Abstract ID: 469
Event: BGRS-abstracts
Sections: [Sym 1] Section “Genome-wide transcriptomics (differential gene expression)”

Single-cell RNA sequencing data from samples obtained from patients with undifferentiated pleomorphic sarcomas and bone marrow (BM) samples obtained from patients with juvenile myelomonocytic leukaemia (JMML) were analyzed.

It was found that JMML samples were characterized by increased proliferation of myelomonocytic cells compared to the control. A JMML sample with an aggressive clinical course and a mutation in PTPN11 was characterized by significant numbers of stem cells (HSCs), early progenitors, and erythroid cells. Analysis of metabolic pathways revealed that cells from JMML samples were characterized by increased activity of the MAPK metabolic pathway compared to controls. This activity was uneven across cell populations and was most pronounced in HSCs and MEPs (Megakaryocyteerythroid progenitor cells). Hyperactivation of the PI3K pathway was also detected in a JMML sample with a PTPN11 mutation. The predominance of the activity of pathways associated with GTPases and histone deacetylation in GMPs (granulocyte/monocyte progenitors) cells in JMML samples was revealed in comparison with the control.
As a result of bioinformatics annotation, the cellular landscape of undifferentiated pleomorphic sarcoma samples was characterized. Clusters of tumor-associated fibroblasts (CARs), tumor cells, macrophages, T cells and minor rare cell population characteristic of individual patients were detected.