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Updated: Nov 30, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
Genetic heterogeneity and clonal evolution in acute myeloid leukemia
Jennifer S Romer-Seibert1, Sara E Meyer
1Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Single-cell sequencing reveals the complex clonal diversity in acute myeloid leukemia (AML). This genetic heterogeneity presents a major challenge for effective AML treatment strategies.
Area of Science:
- Hematology
- Genomics
- Oncology
Background:
- Clonal heterogeneity in acute myeloid leukemia (AML) poses a significant challenge to effective patient treatment.
- Understanding the genetic diversity within AML is crucial for developing targeted therapies.
Purpose of the Study:
- To review recent advancements in understanding AML genetic heterogeneity.
- To highlight the application of single-cell DNA-sequencing technology in AML research.
Main Methods:
- Utilizing single-cell DNA-sequencing to map the clonal architecture of AML.
- Analyzing the mutational landscape of AML at diagnosis, during treatment, and at relapse.
Main Results:
- Single-cell technologies provide high-resolution insights into AML clonal complexity.
- The mutational landscape of AML exhibits significant diversity, enabling adaptation and evolution under pressure.
- AML is characterized by a dynamic ecosystem of evolving clones.
Conclusions:
- Single-cell sequencing is a powerful tool for dissecting AML heterogeneity.
- Understanding clonal evolution is key to overcoming treatment resistance in AML.
- Future therapeutic strategies must account for the adaptive nature of AML clones.
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