Expression profiling of leukemia patients: key lessons and future directions

Gene expression profiling (GEP) is a well-established indispensable tool used to study hematologic malignancies, including leukemias. Here, we summarize the insights into the molecular basis of leukemias obtained by means of GEP, focusing especially on acute myeloid leukemia (AML), one of the first diseases to be extensively studied by GEP. Profiling mRNA and microRNA expression are discussed in view of their applicability to class prediction, class discovery, and comparison, as well as outcome prediction, and special attention is paid to the recent advances in our understanding of the role of alternative RNA splicing in AML. In addition to microarray-based GEP approaches, over the last few years RNA sequencing based on next-generation sequencing technology is gaining wider recognition as an advanced tool for transcriptome profiling. Therefore, the advantages of RNA sequencing-based GEP and its current and potential implications in AML are discussed. Finally, we also highlight recent efforts to integrate already available and newly acquired omics data sets so that a more precise understanding of AML biology and clinical behavior can be achieved, which ultimately will contribute to further refine leukemia management.