Array comparative genomic hybridization analysis of adult acute leukemia patients

We have performed a retrospective array-based comparative hybridization (array-CGH) study on 41 acute leukemia samples [n = 17 acute lymphoblastic leukemia (ALL) patients only at diagnosis, n = 3 ALL patients both at diagnosis and relapse; n = 20 acute myeloid leukemia (AML) patients only at diagnosis and n = 1 AML patient both at diagnosis and relapse] using an Agilent 44 K array. In addition to previously detected cytogenetic aberrations, we observed cryptic aberrations in 95% of ALL and 90.5% of AML cases. ALL-specific recurrent abnormalities were RB1 (n = 3), PAX5 (n = 4), and CDKN2B (n = 3) deletions; AML-specific recurrent abnormalities were HOXA9 and HOXA10 (n = 2) deletions and NOTCH1 duplication (n = 2). Recurrent duplication of the ELK1 oncogene was observed in both ALL (n = 2) and AML (n = 3) cases. Our results demonstrate that oligo-array CGH (oaCGH) is an effective method for defining copy number alterations and identification of novel recurring unbalanced abnormalities. At least for now, however, the use of oaCGH for routine diagnosis still has some restrictions.