Bernard O, Barin C, Charrin C, Mathieu-Mahul D, Berger R
U. 301 I.N.S.E.R.M.-I. G.M., Paris, France.
Leukemia. 1993 Oct;7(10):1509-13.
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.
在15%至29%的人类T细胞急性淋巴细胞白血病(T-ALL)中,位于1号染色体1p32带的TAL1基因座发生重排。这些改变包括tald亚显微缺失(占T-ALL的12%至26%)或t(1;14)(p32;q11)染色体易位(占儿童T-ALL的3%)。这两种类型的改变都优先影响TAL1基因座的5'部分。它们的主要后果似乎是TAL1基因的转录激活。我们对两例ALL中的t(1;14)(p32;q11)进行了特征分析。两例均影响14q11处的TCRδ基因片段和1p32处TAL1基因座的5'部分。第一例代表与T-ALL相关的“经典”t(1;14)。其分析表明在易位过程中使用了位于TAL1第三外显子中的类似重组信号的序列。在另一例中,与Dδ区域的重排发生在TAL1转录起始位点的5'端。该例表现出B淋巴细胞免疫表型,因此提示TAL1激活的假定致癌性并不局限于T细胞恶性肿瘤。