Identification of novel sub-microscopic copy number aberrations in adult acute myeloid leukemia

In this study we have screened 56 pairs of AML samples for cryptic copy number aberration and loss-of-heterozygosity. We have identified 80 CNAs among 56 patient samples; 21 containing <5 genes while 11 contained or were present within a single gene. Four (7%) patients carried gains at sub-telomeres on multiple chromosomes. Some of the cryptic regions are common with other recent studies while most are novel. Also, we show that it is better to analyse sample at diagnosis and sample at remission (paired control) both against a common unrelated control and then compare the two results than analysing the diagnostic sample directly against the paired control. Genomic DNA from 56 diagnostic AML samples were analysed using Affymetrix SNP 6.0 arrays. Genomic DNA at the time of remission from each patient served as paired-control. Prevalence of copy number aberrations and regions of homozygosity were identified.