Characterization of translocation t(1;14)(p32;q11) in a T and in a B acute leukemia

The TAL1 locus on chromosome band 1p32 is rearranged in 15 to 29% of human T-cell acute lymphoblastic leukemias (T-ALLs). These alterations consist of either a tald submicroscopic deletion (12-26% of T-ALL) or a t(1;14)(p32;q11) chromosomal translocation (3% of childhood T-ALL). Both types of alterations preferentially affect the 5' part of the TAL1 locus. Their main consequence appears to be transcriptional activation of the TAL1 gene. We have characterized two cases of t(1;14)(p32;q11) in ALL. Both affect the TCR delta gene segments at 14q11 and the 5' part of the TAL1 locus at 1p32. The first case represented a 'classical' t(1;14), associated with T-ALL. Its analysis indicates the use of a recombination signal-like sequence localized in the third exon of TAL1 in the translocation process. In the other case, the rearrangement to the D delta region occurred 5' to the TAL1 transcription start sites. This case exhibited a B-lymphoid immunophenotype thus suggesting that the putative oncogenicity of TAL1 activation is not restricted to T-cell malignancies.