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

Br J Haematol. 2014 Jul;166(2):250-3. doi: 10.1111/bjh.12850. Epub 2014 Mar 27.

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.

Keywords: IKZF1; copy number alterations; lymphoid blast crisis; paediatric CML.

Publication types

  • Multicenter Study

MeSH terms

  • 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

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • IKZF1 protein, human
  • Neoplasm Proteins
  • Ikaros Transcription Factor

Associated data

  • GENBANK/NM006060