Acute lymphoblastic leukemia and chromosome 21

A short review of chromosome 21 abnormalities in acute lymphoblastic leukemia (ALL) is presented. Trisomy and polysomy 21 are nonrandom anomalies that are frequently observed in ALL. Their occurrence, although not specific, as well as the high incidence of acute leukemia in subjects with constitutional trisomy 21, suggests that chromosome 21 plays a particular role in leukemogenesis. More specific to ALL, t(12;21)(p13;q22), resulting in a fusion TEL-AML1, gene has recently been shown to be the most frequent translocation in childhood B-cell lineage ALL (20–30% of cases). In addition, the importance of analysis of marker chromosomes with fluorescence in situ hybridization (FISH) techniques is underscored as partial amplifications or rearrangements of chromosome 21 may be implicated.