Abstract

Chromosomal microarray (CMA) can detect genome-wide small copy number abnormalities (CNAs) and copy-neutral loss of heterozygosity (CN-LOH) better than conventional karyotyping and fluorescence in situ hybridization (FISH) for hematologic malignancies. Apart from the limitations in detecting balanced chromosomal rearrangements and low-level malignant clones, CMA has clinical utility in detecting significant recurrent and novel variants with diagnostic, prognostic, and therapeutic evidence. It can successfully complement conventional cytogenetic tests for several hematological malignancies, including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL), and multiple myeloma (MM). An increase in CMA testing for hematologic malignancies is expected to identify novel markers of clinical significance.