Genetic alterations targeting lymphoid development in acute lymphoblastic leukemia

While more than 80% of children with acute lymphoblastic leukemia (ALL) are cured with current chemotherapeutic regimens, a significant proportion of this patient population is at high risk of relapse. Recent advances in genomic profiling have identified novel genetic alterations that target key growth and development pathways in ALL and that influence the risk of treatment outcome. Notably, deletions and sequence mutations of lymphoid transcription factors are central events in the pathogenesis of B-lymphoid leukemia. Here, we describe these modern molecular techniques and their application to leukemia research. We also discuss the genetic lesions identified from these studies and how novel therapeutics directed at these targets may improve survival of pediatric ALL patients at high risk for relapse.