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Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia - a polish paediatric population
Monika Lejman1, Borys Styka2, Joanna Zawitkowska3
1Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, ul. Antoniego Gębali 6, Lublin, 20- 093, Poland. monika.lejman@umlub.pl.
Insights
Cytogenetic testing is crucial for diagnosing childhood acute lymphoblastic leukemia (ALL) and improving treatment outcomes. Specific genetic findings like ETV6::RUNX1 and high hyperdiploidy indicate a good prognosis in B-cell ALL patients.
Area of Science:
- Pediatric Hematology/Oncology
- Cancer Genetics
- Clinical Cytogenetics
Background:
- Childhood acute lymphoblastic leukemia (ALL) is a heterogeneous disease.
- Genetic abnormalities are key prognostic indicators in pediatric ALL.
- The Polish ALL IC-BFM 2009 protocol guides treatment for newly diagnosed ALL patients.
Purpose of the Study:
- To analyze cytogenetic findings in a large cohort of pediatric ALL patients.
- To correlate cytogenetic data with clinical outcomes, including overall survival (OS) and event-free survival (EFS).
- To evaluate the role of cytogenetics in treatment stratification within the ALL IC-BFM 2009 protocol.
Main Methods:
- Retrospective analysis of cytogenetic data from 1337 pediatric ALL patients (aged 1-18 years) treated between 2011-2018.
- Correlation of cytogenetic findings (karyotypes, specific aberrations) with clinical data and treatment outcomes.
- Statistical analysis to determine prognostic significance of genetic factors.
Main Results:
- Overall survival (OS) was 95.58% for B-cell ALL and 80.43% for T-cell ALL.
- Event-free survival (EFS) rates were 86.69% for B-cell ALL and 72.92% for T-cell ALL.
- ETV6::RUNX1 and high hyperdiploidy (HeH) were associated with favorable prognosis in B-cell ALL (OS >97%, EFS >92%).
- Low hyperdiploidy and BCR::ABL1 aberration showed a trend towards worse outcomes.
- HeH patients lacking trisomy 17 and 18 had significantly higher death and relapse rates compared to those with double trisomy.
Conclusions:
- Cytogenetic testing is indispensable for diagnosing pediatric ALL and guiding treatment decisions.
- Specific genetic aberrations, such as ETV6::RUNX1 and HeH, are strong predictors of favorable outcomes.
- Treatment stratification based on cytogenetic analysis improves outcomes for children with ALL.
- Further investigation into the prognostic impact of specific chromosomal changes in HeH is warranted.
Abstract:
Genetic findings are important independent prognostic factors in childhood acute lymphoblastic leukaemia (ALL). This study presents cytogenetic data correlated with clinical factors of 1337 patients aged 1-18 years with newly diagnosed ALL treated between 2011 and 2018 under the Polish ALL IC-BFM 2009 therapeutic protocol. Overall survival (OS) for children with B-cell ALL was 95.58% at 5 years, while OS for children with T-cell ALL was 80.43% (p < 0.001). The event-free survival (EFS) rates were 86.69% and 72.92%, respectively, and the difference was also statistically significant (p < 0.001). The most common karyotypes observed were normal in 31.79% (n = 425) and high hyperdiploidy (HeH) in 18.4% (n = 246). Two aberrations were associated with a good prognosis in patients with B-cell ALL: ETV6::RUNX1 (OS = 98.47% and EFS 92.75%) and high hyperdiploidy (OS = 97.52% and EFS = 92.5%). Patients with low hyperdiploidy as well as patients with BCR::ABL1 aberration (OS = 73.05%, EFS = 73.05%) indicated a trend towards worse results (OS = 92.29%, EFS = 81.21%). Death and relapse rates were significantly higher in HeH patients without trisomy 17 and 18 compared to those with double trisomy 17 and 18 (p = 0.013). Our study advocates, cytogenetic testing remains an important tool in the diagnosis of paediatric patients with ALL IC-BFM 2009 protocol, as well as it shows that cytogenetic testing's use for treatment stratification improved the outcome of children with ALL in Polish paediatric onco-haematology centres.
