Acute leukemia has been well characterized genetically, largely due to the successful implementation of cytogenetic techniques to identify large chromosomal abnormalities, the detection of which has proven important in terms of diagnosis, prognosis and treatment. There has been an effort to use high resolution genomic profiling to identify novel genetic alterations that contribute to leukemogenesis.
Several microarray-based techniques for the genome-wide assessment of DNA copy number alterations (CNA) are now routinely used in the study of cancer genetics. Currently, the Cytogenetics Laboratory at C&W uses numerous cyotogenetic techniques, including karyotype, fluorescent in-situ hybridization, and more recently microarray to provide a comprehensive genomic analysis of pediatric acute leukemia. The power of microarray is that it can identify small CNA's and well as regions of copy number-neutral loss of heterozygosity (CN-LOH).
Currently, all leukemia’s are evaluated in the Cytogenetics laboratory and CMA is performed. Established clinical thresholds are used for identifying CNAs. The aim of the current research project is to furhter explore the existing data looking at much smaller CNAs (outside of the clinical thresholds) and assess CN-LOH. The use of SNP-arrays to identify somatically altered regions of the genome is anticipated to lead to the discovery of clinically relevant genes involved in leukemogenesis.