Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol
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...
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2025-07-01
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| Online Access: | https://doi.org/10.1038/s41598-025-12762-5 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Monika Lejman |
| collection | DOAJ |
| description | 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. |
| format | Article |
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| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-07-01 |
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| spelling | doaj-art-298022df69ff4e08891d5147b4b9f6ca2025-08-20T03:46:07ZengNature PortfolioScientific Reports2045-23222025-07-0115111210.1038/s41598-025-12762-5Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocolMonika Lejman0Borys Styka1Joanna Zawitkowska2Anna Pastwińska3Ewa Studniak4Katarzyna Skonieczka5Marta Zacharczuk6Katarzyna Całka7Olga Haus8Panasiuk Barbara9Beata Sadowska10Anna Przybyłowicz-Chalecka11Małgorzata Jarmuż-Szymczak12Maria Malm13Bartłomiej Drop14Jerzy R. Kowalczyk15Independent Laboratory of Genetic Diagnostics, Medical University of LublinIndependent Laboratory of Genetic Diagnostics, Medical University of LublinDepartment of Pediatric Haematology, Oncology and Transplantology, Medical University of LublinDepartment of Tumor Biology and Genetics, Medical University of WarsawCytogenetic Unit, Independent Public Clinical Hospital nr 2, Pomeranian Medical UniversityDepartment of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in TorunDepartment of Hematology, Blood Neoplasms and Bone Marrow Transplantation, Medical University of WrocławDepartment of Hematology, Blood Neoplasms and Bone Marrow Transplantation, Medical University of WrocławDepartment of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in TorunDepartment of Clinical Genetics, Medical University of BialystokDepartment of Pediatric Oncology and Hematology, Cytogenetics and Molecular Genetics Laboratory, University Children’s HospitalDepartment of Haematology and Bone Marrow Transplantation, Poznań University of Medical SciencesDepartment of Haematology and Bone Marrow Transplantation, Poznań University of Medical SciencesDepartment of Medical Informatics and Statistics with e-Health Lab, Medical University of LublinDepartment of Medical Informatics and Statistics with e-Health Lab, Medical University of LublinDepartment of Pediatric Haematology, Oncology and Transplantology, Medical University of LublinAbstract 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.https://doi.org/10.1038/s41598-025-12762-5Cytogenetics aberrationsBCR:ABL1KMT2A-rETV6:RUNX1KaryotypeChildhood acute lymphoblastic leukaemia |
| spellingShingle | 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 Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol Scientific Reports Cytogenetics aberrations BCR:ABL1 KMT2A-r ETV6:RUNX1 Karyotype Childhood acute lymphoblastic leukaemia |
| title | Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol |
| title_full | Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol |
| title_fullStr | Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol |
| title_full_unstemmed | Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol |
| title_short | Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia — a polish paediatric population treated according to ALL-IC BFM 2009 protocol |
| title_sort | cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia a polish paediatric population treated according to all ic bfm 2009 protocol |
| topic | Cytogenetics aberrations BCR:ABL1 KMT2A-r ETV6:RUNX1 Karyotype Childhood acute lymphoblastic leukaemia |
| url | https://doi.org/10.1038/s41598-025-12762-5 |
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