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Cytogenetics and genomics in pediatric acute lymphoblastic leukaemia
Željko Antić1, Jana Lentes1, Anke K Bergmann1
1Department of Human Genetics, Hannover Medical School (MHH), Hannover, Germany.
Insights
Significant advancements in childhood acute lymphoblastic leukemia (ALL) diagnostics and treatment have emerged over 50 years. New genetic insights and targeted therapies, including AI, promise improved outcomes for pediatric ALL patients.
Area of Science:
- Pediatric Oncology
- Hematology
- Cancer Genomics
Background:
- Childhood acute lymphoblastic leukemia (ALL) management has evolved significantly over the past five decades.
- Progress stems from enhanced understanding of ALL's genetic and biological underpinnings.
- This has led to risk-adapted therapies and novel targets like tyrosine kinase inhibitors for BCR::ABL1-positive ALL.
Purpose of the Study:
- To review current developments in the cytogenetic diagnostics and management of pediatric ALL.
- To provide an overview of key advances in the genetic classification of ALL.
- To discuss future perspectives, including the impact of artificial intelligence (AI).
Main Methods:
- Review of recent literature on pediatric ALL diagnostics and treatment.
- Analysis of genetic classification advancements.
- Exploration of emerging technologies like AI in ALL management.
Main Results:
- Significant improvements in ALL diagnostics, treatment, and management over 50 years.
- Introduction of risk-adapted protocols and targeted therapies (e.g., tyrosine kinase inhibitors).
- Emerging genetic biomarkers and therapeutic targets are enhancing treatment strategies.
Conclusions:
- Continued advances in ALL taxonomy, genetic biomarkers, and targeted/immunotherapies are crucial.
- Frontline integration of novel therapies may further improve pediatric ALL outcomes.
- New techniques, including AI, offer promising future directions for ALL management.
Abstract:
The last five decades have witnessed significant improvement in diagnostics, treatment and management of children with acute lymphoblastic leukaemia (ALL). These advancements have become possible through progress in our understanding of the genetic and biological background of ALL, resulting in the introduction of risk-adapted treatment and novel therapeutic targets, e.g., tyrosine kinase inhibitors for BCR::ABL1-positive ALL. Further advances in the taxonomy of ALL and the discovery of new genetic biomarkers and therapeutic targets, as well as the introduction of targeted and immunotherapies into the frontline treatment protocols, may improve management and outcome of children with ALL. In this review we describe the current developments in the (cyto)genetic diagnostics and management of children with ALL, and provide an overview of the most important advances in the genetic classification of ALL. Furthermore, we discuss perspectives resulting from the development of new techniques, including artificial intelligence (AI).
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