Trial Information

High Resolution Genome Wide-Copy Number Profiling and Pharmacogenomic Analysis in Acute Lymphoblastic Leukemia by Single Nucleotide Polymorphism (SNP) Arrays

The investigators will use several approach to identify common genetic variations:
single-nucleotide polymorphisms (SNPs), genomic insertions and deletions, and genetic copy
number variations (CNVs), interchromosomal translocations, loss of heterozygosity (LOH), and
uniparental disomy (UPD), Epigenetic changes, such as silencing of gene expression via DNA
hypermethylation, that can also influence drug effects, and aberrant methylation of CpG
islands is a common feature of cancer cells. Over the years, methods of cytogenetic analysis
evolved and became part of routine laboratory testing, providing valuable diagnostic and
prognostic information in hematologic disorders. The recently developed single nucleotide
polymorphism (SNP) arrays offer the ability to define simultaneously the copy number changes
and loss of heterozygosity (LOH) events occurring in a tumor, at high resolution and
throughout the genome. In addition to information on copy number changes, SNP arrays allow
us to investigate the impact of a high number of SNPs on drug response and toxicity This
molecular integrated approach will lead to the identification of alterations potentially
involved in the complex mechanisms of leukemogenesis and at the identification and
validation of novel biological factors which may serve as predictors of drug-response and
drug-resistance or which may be suitable for targeted therapy.