Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

An autoinflammatory RIG-I variant causing Singleton-Merten syndrome associates with small non-coding Y-RNAs.

Discovery immunology·2026
Same author

Comprehensive lincRNA Transcriptome in Acute Myeloid Leukemia: Integrating Known and Newly Identified lincRNAs Across Pediatric and Adult Cohorts.

Non-coding RNA·2026
Same author

On the state of protein function prediction: a report on the fourth CAFA challenge.

bioRxiv : the preprint server for biology·2026
Same author

Rheumatic Digital Twin: Proposed Machine Learning-Based Multimodal Framework to Inform Clinical Decision-Making.

Journal of medical Internet research·2026
Same author

Characterization of the clade 4 non-toxigenic <i>C. difficile</i> isolate L-NTCD03 carrying the <i>cfr</i>(B) gene.

FEMS microbes·2026
Same author

Nonsense Mutation in <i>USH2A</i> Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

International journal of molecular sciences·2026

Related Experiment Video

Updated: Jan 17, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.0K

Resolving inter- and intra-patient heterogeneity in NPM1-mutated AML at single-cell resolution.

E Onur Karakaslar1,2,3, Eva M Argiro4, Nadine E Struckman4

  • 1Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands.

Leukemia
|September 15, 2025
PubMed
Summary

This study reveals three distinct subtypes of NPM1-mutated acute myeloid leukemia (AML) by analyzing single-cell data. These subtypes show unique patterns in myeloid cell development, impacting prognosis and treatment strategies for AML patients.

More Related Videos

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations
09:34

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

Published on: October 25, 2018

7.1K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.2K

Related Experiment Videos

Last Updated: Jan 17, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.0K
A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations
09:34

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

Published on: October 25, 2018

7.1K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.2K

Area of Science:

  • Hematology
  • Genomics
  • Molecular Biology

Background:

  • NPM1-mutated acute myeloid leukemia (AML) is a major subtype of myeloid neoplasms.
  • Current classification integrates morphology, clinical, and genomic data.
  • Bulk transcriptomics suggests potential for improved prognostication and therapy guidance in AML.

Purpose of the Study:

  • To characterize the heterogeneity within NPM1-mutated AML using single-cell resolution.
  • To identify distinct transcriptional subtypes and their impact on myeloid development.
  • To correlate findings with previous bulk transcriptomics classifications.

Main Methods:

  • Single-cell RNA-sequencing (scRNA-seq) on 16 AML samples.
  • Spectral flow cytometry for validation across platforms.
  • Analysis of myeloid cell clusters, lineage commitment, and maturation.

Main Results:

  • Generated a comprehensive atlas of NPM1-mutated AML, showing skewed myelopoiesis.
  • Identified three distinct NPM1-mutated transcriptional subtypes with reproducible lineage skewing patterns.
  • Demonstrated that leukemic cells are present across various myeloid cell clusters, indicating developmental skewing rather than complete arrest.
  • Highlighted early skewing in myelopoiesis by observing differences in hematopoietic stem cell abundance.

Conclusions:

  • NPM1-mutated AML exhibits three reproducible patterns of lineage skewing.
  • These patterns, identified via scRNA-seq and spectral flow cytometry, offer potential for improved patient prognosis and targeted therapy.
  • The findings refine our understanding of AML heterogeneity at a single-cell level.