Clonal Heterogeneity in Acute Lymphoblastic Leukemia at diagnosis and during chemotherapy treatment detected by single-cell sequencing

ALL is aggressive leukemia that occurs most frequently in children and is characterized by the presence of few chromosomal rearrangements and additional mutations.

Dr. Cools’ lab used single-cell targeted DNA sequencing (Tapestri, Mission Bio) and single-cell RNA-sequencing (10x Genomics) to determine the clonal heterogeneity of the leukemia cells of 20 ALL cases at diagnosis and monitored the clonal evolution during chemotherapy treatment. Specifically, the lab designed a custom ALL panel and obtained accurate single-nucleotide variant and small insertion-deletion mutation calling for 305 amplicons covering 110 genes in about 4400 cells per sample and time point. Bone marrow and/or blood samples from 12 B-cell ALL and eight T-cell ALL patients were analyzed.

Dr. Cools will discuss how single-cell DNA amplicon sequencing is a sensitive assay to detect clonal architecture and evolution of the malignant cells in ALL, and present his findings published in the Blood paper, “Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia”.

	Jan Cools, PhD Professor, VIB Center for Cancer Biology & KU Leuven Center for Human Genetics, Leuven, Belgium
	Gema Fuerte, MS European Field Application Scientist, Mission Bio
	Lei Tong, PhD Senior Regional Marketing Manager, Illumina Asia-Pacific Japan