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Published on: October 17, 2025
[Genetic polymorphism and outcome in acute lymphoblastic leukaemia of childhood]
Monika Jurkowska1, Iwona Malinowska, Jerzy Bal
1Zakład Genetyki Medycznej, Instytutu Matki i Dziecka, Warszawa. mjurkowska@gazeta.pl
Insights
Pediatric acute lymphoblastic leukemia (ALL) treatment shows high remission but frequent relapse and toxicity. This review explores how genetic variations in drug-metabolizing enzymes may impact treatment outcomes in children with ALL.
Area of Science:
- Pharmacogenomics
- Pediatric Oncology
- Leukemia Research
Background:
- Current acute lymphoblastic leukemia (ALL) treatments rely on initial risk factors, achieving high remission rates but facing challenges with relapse and drug toxicity in children.
- A significant portion of pediatric ALL patients experience relapse, and many suffer from severe side effects of chemotherapy.
- Event-free survival rates in children with normal blast karyotype treated with the BFM 90 protocol were 75%, indicating factors beyond initial genetics influence outcomes.
Purpose of the Study:
- To investigate the role of genetic and functional polymorphisms in drug-metabolizing enzymes affecting pediatric ALL treatment.
- To identify potential non-genetic factors influencing treatment outcomes in children with ALL.
- To provide a comprehensive overview of key enzymes in anticancer drug metabolism and their polymorphic frequencies in Caucasian populations.
Main Methods:
- Literature review focusing on genetic polymorphisms of drug-metabolizing enzymes relevant to ALL chemotherapy.
- Analysis of existing data on enzyme function and polymorphism frequencies in Caucasian populations.
- Description of fundamental enzymes within anticancer drug metabolic pathways.
Main Results:
- The study highlights the potential impact of genetic variations in drug-metabolizing enzymes on pediatric ALL treatment efficacy and toxicity.
- It suggests that factors independent of the initial leukemia genetic background significantly influence patient outcomes.
- Polymorphism frequencies of key enzymes in Caucasian populations are discussed in the context of ALL treatment.
Conclusions:
- Genetic polymorphisms in drug-metabolizing enzymes represent a critical area for understanding and potentially improving pediatric ALL treatment.
- Further research into pharmacogenomics can help personalize therapy, reduce toxicity, and improve event-free survival in children with ALL.
- Understanding these genetic factors may lead to more effective, risk-adapted therapeutic strategies beyond current protocols.
Abstract:
Current treatment strategies of leukaemia use risk factors existing at the time of diagnosis to establish risk-adapted therapy. This approach currently results in overall 95% rate of complete remission in paediatric acute lymphoblastic leukemia (ALL). However, as many as 30% of patients suffer from relapse and majority of children with ALL is profoundly affected by toxicity of anticancer drugs. In our study the probability of event free survival in children presenting with normal blast karyotype and treated according to BFM 90 protocol was 75%. This suggests the existence of factors independent from leukaemia genetic background, which influences the outcome of patients with ALL. This review is focused on genetic and functional polymorphism of enzymes that have or may have the influence on metabolism of drugs included in treatment protocol for ALL in children. Basic enzymes of anticancer drug metabolic pathways are described and frequency of their polymorphisms in Caucasian population is discussed.
