Genotyping Analysis of Acute Lymphoblastic Leukemia

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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Acute Lymphoblastic Leukemia, Adult

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Acute Lymphoblastic Leukemia of any subtype OR Lymphoid blast crisis Chronic Myeloid Leukemia Age > 18 years Available data set of clinical data for review (demographics including ethnicity, stage of disease, concise treatment history, cytogenetic reports, and molecular results if available as routinely performed during diagnosis procedures) Inclusion Criteria: No written informed consent No DNA samples available

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To provide high resolution molecular karyotyping analysis by single nucleotide polymorphism array (SNP 6.0, Affymetrix) of adult patients with diagnosis of acute lymphoblastic leukemia (ALL), newly enrolled in clinical trials |  | December 2011 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To study by pharmacogenomic analysis based on SNPs profile, and predict the individual susceptibility (i.e. efficacy and toxicity) to therapeutic treatment and disease development |  | December 2011 | 
| To identify useful biomarkers for disease outcome and disease progression |  | December 2011 | 
| To identify useful biomarkers related to drug exposure or to response to potential toxic drugs |  | December 2011 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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pharmacogenomics, genotyping