An investigation of the t(12;21) rearrangement in children with B‐precursor acute lymphoblastic leukaemia using cytogenetic and molecular methods

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Abstract
The t(12;21) is the commonest recurrent translocation in childhood acute lymphoblastic leukaemia (ALL), the presence of which has been suggested to be a good prognostic feature. We have studied 22 childhood cases of B‐precursor ALL with this rearrangement, and have found no significant differences in event‐free survival between these and a control group of patients with similar phenotypes. Using a variety of cytogenetic and molecular techniques, we have confirmed a strong association with co‐expression of myeloid markers, frequent deletions of the short‐arm of the untranslocated chromosome 12 homologue and duplication of the derivative chromosome 21. Intragenic deletion of the untranslocated ETV6 gene in 3/12 informative patients points to the likelihood of this gene being a target for deletion.

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