Lymphoblastic leukemia and lymphoma: Molecular diagnostics

Abstract

Acute lymphoblastic leukemia and lymphoblastic lymphoma are common malignancies in childhood, with differing presentations and outcome depending on age, immunophenotype (precursor T cell vs. precursor B cell), and particularly the type of genomic change/chromosomal translocation present. A two-step mechanism of transformation is seen with identifiable genetic alterations in transcriptional factors and growth regulatory genes driving maturation arrest and proliferation, respectively. Given the aggressive nature of this disease, early intervention with multiagent chemotherapy is essential, with pharmacogenomic testing used to tailor optimal treatment regimens. Minimal residual disease analysis by flow cytometry or PCR methods is an important predictor of long-term outcome, particularly in pediatric cases.