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Exploiting Clonal Evolution to Improve the Diagnosis and Treatment Efficacy Prediction in Pediatric AML
Salvatore Nicola Bertuccio1, Laura Anselmi1, Riccardo Masetti2
1Pediatric Oncology and Hematology "Lalla Seràgnoli", Pediatric Unit-Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40126 Bologna, Italy.
Insights
Pediatric acute myeloid leukemia (AML) shows significant genetic heterogeneity, influencing relapse risk. Understanding clonal evolution and utilizing innovative tools can improve diagnosis and guide targeted therapies for better outcomes.
Area of Science:
- Pediatric Hematology Oncology
- Cancer Genomics
- Molecular Diagnostics
Background:
- Acute myeloid leukemia (AML) is a primary cause of cancer-related death in children.
- Despite treatment advances, approximately 30% of pediatric AML patients relapse, often with poor chemotherapy response.
- Genetic heterogeneity in AML contributes to varying treatment susceptibility and relapse risk.
Purpose of the Study:
- To review the genetic heterogeneity of pediatric AML and its link to relapse.
- To highlight innovative tools for subclone characterization and preclinical drug screening.
- To discuss the potential of targeted therapies for improving pediatric AML prognosis and reducing treatment toxicity.
Main Methods:
- Review of current literature on pediatric AML genetics and clonal evolution.
- Discussion of high-throughput techniques for molecular profiling.
- Exploration of preclinical models for drug development.
Main Results:
- Pediatric AML is characterized by significant genetic diversity, with distinct subclones.
- Specific molecular profiles are associated with differential responses to conventional chemotherapy.
- Clonal evolution plays a critical role in disease relapse.
Conclusions:
- Understanding AML genetic heterogeneity is crucial for improving diagnosis and predicting treatment efficacy.
- Innovative diagnostic tools and preclinical models can aid in developing more effective therapies.
- Targeted therapies hold promise for improving survival rates and minimizing side effects in pediatric AML.
Abstract:
Despite improvements in therapeutic protocols and in risk stratification, acute myeloid leukemia (AML) remains the leading cause of childhood leukemic mortality. Indeed, the overall survival accounts for ~70% but still ~30% of pediatric patients experience relapse, with poor response to conventional chemotherapy. Thus, there is an urgent need to improve diagnosis and treatment efficacy prediction in the context of this disease. Nowadays, in the era of high throughput techniques, AML has emerged as an extremely heterogeneous disease from a genetic point of view. Different subclones characterized by specific molecular profiles display different degrees of susceptibility to conventional treatments. In this review, we describe in detail this genetic heterogeneity of pediatric AML and how it is linked to relapse in terms of clonal evolution. We highlight some innovative tools to characterize minor subclones that could help to enhance diagnosis and a preclinical model suitable for drugs screening. The final ambition of research is represented by targeted therapy, which could improve the prognosis of pediatric AML patients, as well as to limit the side toxicity of current treatments.
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