همایش ملی بیوانفورماتیک ایران

صفحه اصلی / 4th international edition and 13th Iranian Conference on Bioinformatics

Single-Cell Transcriptomic Analysis Reveals Cellular Heterogeneity and Molecular Markers in Acute Leukemia Subtypes

نویسندگان :

Fatemeh Mohagheghian¹ Zahra Salehi² Najmeh Salehi³

1- Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran 2- Hematology, Oncology and Stem Cell Transplantation Research Center, Research Institute for Oncology, Hematology and Cell Therapy, Tehran University of Medical Sciences, Tehran, Iran 3- School of Biology, College of Science, University of Tehran, Tehran, Iran

کلمات کلیدی :

Acute leukemia،Molecular markers،Single-cell RNA sequencing،Leukemia subtypes،Cellular heterogeneity

چکیده :

Abstract Single-cell transcriptomic profiling has provided new insights into understanding the cellular and molecular diversity of acute leukemias. These malignancies, including T-ALL, B-ALL, and AML, exhibit significant heterogeneity in their cellular composition and gene expression profiles. However, the specific cell populations contributing to leukemia progression and the molecular markers distinguishing subtypes remain poorly understood (García-Sanz and Jiménez, 2021). We characterized the heterogeneous cell populations of leukemia and healthy controls using single-cell RNA sequencing (scRNA-seq) and identified key molecular markers associated with these malignancies. scRNA-seq data were analyzed using the Seurat package for clustering, cell-type identification, and differential gene expression. Cellular frequencies across Blast, T-cell, B-cell, Monocyte, NK, Erythrocyte, and Dendritic Cells were compared, and subtype-specific markers were identified. Blast cells were highly enriched in T-ALL (59.35%) compared to AML, B-ALL, and healthy controls, where healthy cells showed only a small proportion of blast cells (4.93%). B-ALL had higher proportions of NK cells (36.08%) and B cells (35.34%), while monocytes were most abundant in AML (58.96%). CD2AP and RPN1 were identified as distinguishing markers for Blast cells in T-ALL and B-ALL. This study highlights acute leukemia subtypes' cellular heterogeneity and distinct gene expression profiles, providing insights into their classification. The findings contribute to the development of targeted diagnostic and therapeutic strategies.