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DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia
Naomi E van der Sligte1, Manuela Krumbholz, Agata Pastorczak
1Division of Paediatric Oncology/Haematology, Department of Paediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Insights
Detecting specific genetic changes, known as copy number alterations (CNAs), in children with chronic myeloid leukaemia (CML) could help predict progression to lymphoid blast crisis (LyBC). These alterations were found in LyBC but not in the chronic phase (CML-CP).
Area of Science:
- Paediatric Hematology
- Oncology
- Molecular Diagnostics
Background:
- Chronic myeloid leukaemia (CML) in children can progress to lymphoid blast crisis (LyBC), a severe form with limited treatment options.
- Early identification of children with CML-CP at risk for LyBC is crucial for timely intervention.
Purpose of the Study:
- To investigate if B-cell lymphoid leukaemia-specific copy number alterations (CNAs) can be detected in chronic phase CML (CML-CP).
- To determine if these CNAs can predict disease progression to LyBC in paediatric CML patients.
Main Methods:
- Multiplex Ligation-dependent Probe Amplification (MLPA) was employed to analyze for CNAs.
- Specific CNAs associated with B-cell lymphoid leukaemia, including IKZF1, PAX5, and CDKN2A deletions, were targeted.
Main Results:
- Copy number alterations (CNAs) were identified in all evaluated patients diagnosed with CML-LyBC.
- No CNAs were detected in any of the 77 children with CML-CP included in the study.
Conclusions:
- CNAs, specifically those linked to B-cell lymphoid leukaemia, are not present in the chronic phase of paediatric CML.
- The absence of CNAs in CML-CP suggests they are specific indicators of disease progression to LyBC, rather than early markers.
Abstract:
Early recognition of children with chronic phase chronic myeloid leukaemia (CML-CP) at risk for developing a lymphoid blast crisis (LyBC) is desirable, because therapy options in CML-LyBC are limited. We used Multiplex Ligation-dependent Probe Amplification to determine whether B-cell lymphoid leukaemia-specific copy number alterations (CNAs) (e.g. IKZF1, PAX5, CDKN2A deletions) could be detected in CML-CP and may be used to predict disease progression to LyBC. CNAs were detected in all patients with CML-LyBC, but in none of the 77 patients with CML-CP. Based on this study we conclude that CNAs remain a hallmark of disease progression.
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