Molecular Diagnostics in Pediatric Acute Lymphoblastic Leukemia

Remarkable progress has been made in identifying the molecular lesions involved in the pathogenesis of pediatric acute lymphoblastic leukemia. Efforts to clone the genes involved in chromosomal translocations have led to the isolation of a number of novel proto-oncogenes. The biochemical characterization of the encoded products has helped to elucidate important regulatory pathways involved in cellular differentiation, proliferation, or control of cell death, and has helped to define how alterations in these pathways contribute to leukemogenesis. In addition, these efforts have led to the development of molecular-based assays for the identification of the specific molecular lesions. Clinical application of these assays has rapidly led to the realization that molecular lesions can identify distinct patient subgroups with predictable clinical features and responses to therapy. In this review, the emerging role of molecular diagnostics in the clinical management of pediatric patients with acute lymphoblastic leukemia is discussed.