Inverse correlation between Ink4-locus deletions and ICM-DNA hyperdiploidy in childhood acute lymphoblastic leukaemia, relation to clinical characteristics and outcome

Eur J Haematol. 2000 Dec;65(6):390-8. doi: 10.1034/j.1600-0609.2000.065006390.x.

Abstract

Malignant cells from 72 children with ALL were analysed to investigate the relationship between DNA-ploidy and deletion of the Ink4 locus containing the cell-cycle regulating genes p16ink4a, p15ink4b and p14ARF. Image-DNA cytometry (ICM) was used to assess DNA index (DI), and Southern hybridisation was carried out to detect deletions of the Ink4-locus in the leukaemic cells. A DNA content equal to or exceeding 1.16, indicating hyperdiploidy, was detected in 21/72 patients (29%), 1/72 (1.3%) showed DNA-hypodiploidy, and the remaining 50 patients (69%) had a DI within normal limits. Bi-allelic deletion of at least two of the coding sequences from the Ink4 locus was observed in 23/70 (33%) patients. Mono-allelic deletions within the locus were observed in 10/70 patients (14%), and 37/70 patients (53%) had normal signals for both sequences. Out of the 70 patients that could be analysed by both techniques only two had the combination of DNA hyperdiploidy and Ink4-locus bi-allelic deletion (p = 0.004). DNA hyperdiploidy was not associated with any specific clinical characteristics, but there was a trend for a better prognosis for patients with DNA hyperdiploidy (p = 0.09). Ink4-locus deletion was associated with T-cell phenotype and higher white blood cell counts at diagnosis and poor prognosis (p = 0.0015). Multivariate analysis confirmed that Ink4-locus deletion is an independent prognostic marker and a stronger determinant of outcome than DNA ploidy. When DNA ploidy and Ink4-locus deletions were combined, novel subgroups with significantly different outcome could be observed. A group with DNA index > or = 1.16 and no Ink4-locus bi-allelic deletions had an excellent prognosis (p-EFS 0.93 at 60 months), patients with Ink4-locus bi-allelic deletion and a DNA index < 1.16 fared worst (p-EFS 0.57) and patients with no Ink4 deletions and without hyperdiploidy had an intermediate outcome (p-EFS 0.79). The reason for the inverse correlation between DNA ploidy and Ink4 deletion and their combined impact on prognosis remains unclear, and possible reasons are discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actuarial Analysis
  • Adolescent
  • Blotting, Southern
  • Carrier Proteins / genetics*
  • Cell Cycle Proteins*
  • Child
  • Child, Preschool
  • Cyclin-Dependent Kinase Inhibitor p15
  • Cyclin-Dependent Kinase Inhibitor p16
  • Cytogenetic Analysis
  • Diploidy
  • Disease-Free Survival
  • Enzyme Inhibitors
  • Female
  • Flow Cytometry
  • Gene Deletion
  • Genes, Tumor Suppressor / genetics
  • Genes, cdc*
  • Humans
  • Infant
  • Male
  • Multigene Family / genetics
  • Phenotype
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Risk Factors
  • Treatment Outcome
  • Tumor Suppressor Proteins*

Substances

  • CDKN2B protein, human
  • Carrier Proteins
  • Cell Cycle Proteins
  • Cyclin-Dependent Kinase Inhibitor p15
  • Cyclin-Dependent Kinase Inhibitor p16
  • Enzyme Inhibitors
  • Tumor Suppressor Proteins