High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response

Blood. 2009 Jul 30;114(5):1053-62. doi: 10.1182/blood-2008-10-186536. Epub 2009 Apr 30.

Abstract

Precursor T-cell acute lymphoblastic leukemia (T-ALL) in children represents a clinical challenge, because relapses are usually fatal. It is thus necessary to identify high-risk patients as early as possible to effectively individualize treatment. We aimed to define novel molecular risk markers in T-ALL and performed array-based comparative genomic hybridization (array-CGH) and expression analyses in 73 patients. We show that DNA copy-number changes are common in T-ALL and affect 70 of 73 (96%) patients. Notably, genomic imbalances predicted to down-regulate the TGF-beta or up-regulate the PI3K-AKT pathways are identified in 25 of 73 (34%) and 21 of 73 (29%) patients, suggesting that these pathways play key roles in T-ALL leukemogenesis. Furthermore, we identified a deletion at 6q15-16.1 in 9 of 73 (12%) of the patients, which predicts poor early treatment response. This deletion includes the CASP8AP2 gene, whose expression is shown to be down-regulated. The interaction of CASP8AP2 with CASP8 plays a crucial role in apoptotic regulation, suggesting a functional link between the clinical effect of the deletion and the molecular mode of action. The data presented here implicate the TGF-beta and PI3K-AKT pathways in T-ALL leukemogenesis and identify a subgroup of patients with CASP8AP2 deletions and poor early treatment response.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromosomes, Human, Pair 6 / ultrastructure
  • Comparative Genomic Hybridization
  • Cyclin-Dependent Kinase Inhibitor p27
  • Female
  • Gene Dosage
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Male
  • Multicenter Studies as Topic / statistics & numerical data
  • Neoplasm Proteins / genetics*
  • Phosphatidylinositol 3-Kinases / genetics
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / mortality
  • Prognosis
  • Proto-Oncogene Proteins c-akt / genetics
  • Receptor, Notch1 / genetics
  • Signal Transduction / genetics*
  • Transforming Growth Factor beta / genetics
  • Treatment Outcome

Substances

  • CDKN1B protein, human
  • Intracellular Signaling Peptides and Proteins
  • NOTCH1 protein, human
  • Neoplasm Proteins
  • Receptor, Notch1
  • Transforming Growth Factor beta
  • Cyclin-Dependent Kinase Inhibitor p27
  • Phosphatidylinositol 3-Kinases
  • AKT1 protein, human
  • Proto-Oncogene Proteins c-akt

Associated data

  • GEO/GPL5713
  • GEO/GSE8738