Acute lymphoblastic leukemia (ALL) is the most frequent cancer in children and originates
from genetic lesions in progenitor cells responsible for the malignant transformation. The knowledge of
the molecular basis of the ALL is important not only for a better understanding of this disease but also
for the identification of prognostically relevant ALL sub-groups and potential pathways to target
therapy. In this chapter we discuss the molecular basis of acute lymphoblastic leukemia, including the
identification of different genetic alterations in B and T-lineages ALL and the use of the
Immunoglobulin (IG) and T-cell receptor (TR) genes rearrangements, as marker of clonality and
minimal residual disease (MRD) detection.
Keywords: Chromosomal Aberrations, Genetic Alterations in B and T-lineages ALL, Immunoglobulin
(IG), T-cell receptor (TR) Genes Rearrangements, Gene Expression Signatures, Molecular Basis of ALL,
Clonal abnormalities, Pharmacogenetics, Immunoglobulin and TCR genes, Immunoglobulin and TCR gene
rearrangements in ALL, Minimal Residual Disease (MDR) detection.
