Hematopoietic differentiation at single-cell resolution in NPM1-mutated AML

To investigate the relationship between somatic mutations and phenotypic hematologic differentiation at the single-cell level, we used a droplet-based multi-omics single-cell platform on eleven NPM1-mutated AML diagnostic samples. We developed a bioinformatics framework to perform phylogeny-driven genotype correction, that allowed us to study 52 103 single cells. Intra-leukemic genetic heterogeneity was detectable in all patients, including a branched architecture in nine of them, always owing to co-occurring signaling mutations. We identified two groups of NPM1-mutated AML, one characterized by a progenitor immunophenotype and a second one with a predominant monocytic differentiation. We also identified various degrees of intra-leukemic immunophenotype heterogeneity, sometimes associated with strong genetic/phenotype correlations.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001009628	This dataset include the Fastq files from Capture-based targeted high throughput sequencing of bulk, monocytic and progenitor subfractions of PHENOMUT11 sample.	Illumina NovaSeq 6000	1
EGAD00001009629	This dataset include the Fastq files from Mission Bio DNA+Protein single-cell multiomic sequencing from 11 NPM1-mutated AML diagnostic samples.	Illumina NovaSeq 6000	11

Publications	Citations
Hematopoietic differentiation at single-cell resolution in NPM1-mutated AML. Duchmann M, Joudinaud R, Boudry A, Pasanisi J, Di Feo G, Kim R, Bucci M, Chauvel C, Chat L, Larcher L, Pacchiardi K, Mathis S, Raffoux E, Adès L, Berthon C, Clappier E, Roumier C, Puissant A, Preudhomme C, Duployez N, Itzykson R. Blood Cancer J 12: 2022 136	2