Genomic Analysis of Adolescent and Young Adult Acute Lymphoblastic Leukemia

OBJECTIVES:

• To identify somatically acquired genetic copy number and sequence alterations at the time of diagnosis in adolescent and young adults (AYA) acute lymphoblastic leukemia (ALL) samples and to correlate them with clinical and laboratory characteristics and outcome.
• To identify specific microarray multi-gene and multi-exon expression signatures at the time of diagnosis and to correlate them with clinical and laboratory characteristics and outcome.
• To gain insights into the genetic events that contribute to the formation, development and relapse of AYA ALL by integrating the copy number and sequence alterations with the multi-gene signatures and by comparing these with data already generated in pediatric ALL.

OUTLINE: Cryopreserved samples are analyzed for DNA copy number alterations and loss-of-heterozygosity, gene expression profiling, and mutation analysis by single nucleotide polymorphism (SNP) microarrays, Affymetrix Exon arrays, and whole genome amplification (WGA, Repli-G Qiagen). Confirmation studies are then done by fluorescence in situ hybridization (FISH), reverse transcriptase (RT)-polymerase chain reaction (PCR), and rapid amplification of cDNA ends (RACE).