DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia

Naomi E van der Sligte, Manuela Krumbholz, Agata Pastorczak, Blanca Scheijen, Josephine T Tauer, Christina Nowasz, Edwin Sonneveld, Geertruida H de Bock, Tiny G J Meeuwsen-de Boer, Simon van Reijmersdal, Roland P Kuiper, Jutta Bradtke, Markus Metzler, Meinolf Suttorp, Evelina S J M de Bont, Frank N van Leeuwen

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)250-3
Number of pages4
JournalBritish journal of haematology
Issue number2
Publication statusPublished - Jul 2014
Externally publishedYes


  • Biomarkers, Tumor/genetics
  • Blast Crisis/genetics
  • Child
  • DNA Copy Number Variations/genetics
  • DNA, Neoplasm/genetics
  • Disease Progression
  • Early Diagnosis
  • Humans
  • Ikaros Transcription Factor/genetics
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics
  • Molecular Sequence Data
  • Multiplex Polymerase Chain Reaction/methods
  • Neoplasm Proteins/genetics
  • Point Mutation
  • Prognosis


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