Thank you! Your submission has been received!
Oops! Something went wrong while submitting the form.
X
X

Publications

High-throughput single-cell DNA sequencing of acute myeloid leukemia tumors with droplet microfluidics


Pellegrino M, Sciambi A, Treusch S, Durruthy-Durruthy R, Gokhale K, Jacob J, Chen TX, Geis JA, Oldham W, Matthews J, Kantarjian H, Futreal PA, Patel K, Jones KW, Takahashi K, Eastburn DJ.
Genome Research Aug 2018
Abstract

To enable the characterization of genetic heterogeneity in tumor cell populations, we developed a novel microfluidic approach that barcodes amplified genomic DNA from thousands of individual cancer cells confined to droplets. The barcodes are then used to reassemble the genetic profiles of cells from next-generation sequencing data. By using this approach, we sequenced longitudinally collected acute myeloid leukemia (AML) tumor populations from two patients and genotyped up to 62 disease relevant loci across more than 16,000 individual cells. Targeted single-cell sequencing was able to sensitively identify cells harboring pathogenic mutations during complete remission and uncovered complex clonal evolution within AML tumors that was not observable with bulk sequencing. We anticipate that this approach will make feasible the routine analysis of AML heterogeneity, leading to improved stratification and therapy selection for the disease.

VIEW

Area

Heme

Institution Type

Academia

Indication / Modality

Acute Myleoid Leukemia (AML)

Goal of Study

Disease Modeling, Clonal Heterogeneity, Longitudinal, Retrospective

Key Genes

IDH2, NRAS, ASXL1

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

Custom

Proof Point Demonstrated

Better than Bulk, Clonality, Co-occurrence, Sensitivity, Zygosity
REQUEST QUOTE