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Publications

Clonal evolution and changes in two AML patients detected with a novel single-cell DNA sequencing platform


Xu L, Durruthy-Durruthy R, Eastburn DJ, Pellegrino M, Shah O, Meyer E, Zehnder J.
Scientific Reports Jul 2019
Abstract

Next-generation sequencing (NGS) is used to detect gene variants in genetically complex cell populations of cancer patient samples. Traditional bulk analysis can only provide average variant allele frequencies of the targeted genes across all sampled cells. It fails to resolve mutational co-occurrences and may miss rare cancer cells. Genome analysis at the single cell level offers the opportunity to more fully resolve clonal architecture. Peripheral blood mononuclear cells were sampled from acute myeloid leukemia patients longitudinally and single-cell DNA sequencing libraries were generated with a novel droplet-based microfluidics approach. Molecular profiling of single nucleotide variants across thousands of cells revealed genetic chimerism in patients after bone marrow transplantation (BMT). Importantly, hierarchical clustering analysis of single nucleotide variants (SNVs) uncovered a distinct oncogenic clone of cells carrying mutated tumor-suppressor and/or oncogene(s). This novel single-cell DNA sequencing approach enabled precise monitoring of engraftment and revealed clonal evolution of oncogenic cells during the progression and treatment of the disease.

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Area

Heme

Institution Type

Academia

Indication / Modality

Acute Myleoid Leukemia (AML)

Goal of Study

Disease Modeling, Clonal Evolution, CHIP, Longitudinal

Key Genes

TP53

PAD Project

No

Analytes Assessed

InDels, SNV

Sample Storage

Fresh Frozen

Sample Prep

Whole Cells

Sample Type

Patient Material

Tissue / Organ

Bone Marrow Aspirates

Species

Human

Panel Used

Catalog AML Panel

Proof Point Demonstrated

Co-occurrence, Better than Bulk, Clonality, Sensitivity
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