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<p>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% (<i>p</i> &lt; 0.001). The event-free survival (EFS) rates were 86.69% and 72.92%, respectively, and the difference was also statistically significant (<i>p</i> &lt; 0.001). The most common karyotypes observed were normal in 31.79% (<i>n</i> = 425) and high hyperdiploidy (HeH) in 18.4% (<i>n</i> = 246). Two aberrations were associated with a good prognosis in patients with B-cell ALL: <i>ETV6</i>::<i>RUNX1</i> (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 <i>BCR</i>::<i>ABL1</i> 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 (<i>p</i> = 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.</p>

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Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol

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  • 发表日期：

    2025年7月29日

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  • Monika Lejman,
  • Borys Styka,
  • Joanna Zawitkowska,
  • Anna Pastwińska,
  • Ewa Studniak,
  • Katarzyna Skonieczka,
  • Marta Zacharczuk,
  • Katarzyna Całka,
  • Olga Haus,
  • Panasiuk Barbara,
  • Beata Sadowska,
  • Anna Przybyłowicz-Chalecka,
  • Małgorzata Jarmuż-Szymczak,
  • Maria Malm,
  • Bartłomiej Drop,
  • Jerzy R. Kowalczyk

摘要

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.