Molecular analysis of a new translocation, t(X;I4)(q28;qII), in premalignancy and in leukaemia associated with ataxia telangiectasia
✍ Scribed by J. Thick; P. D. Sherrington; P. Fisch; A. M. R. Taylor; T. H. Rabbitts
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 471 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
The disease ataxia telangiectasia (A-T) is a multifaceted disorder in which patients have an increased chance of developing a T-cell leukaemia, often with abnormalities of chromosome 14, but sometimes with rare translocations, like t(X; 14)(q28;q I I). We describe the cloning of the breakpoint of one such novel t(X;14) from an A-T patient. The translocation breaks within the T cell receptor a chain gene on chromosome 14 at band q I I and in a region of the X chromosome, within about I Mb of the telomere of the long arm. The patient subsequently developed T-cell prolymphocytic leukaemia (T-PLL), and molecular examination showed that the tumour cells carried the same t(X; 14) breakpoint as that cloned from the premalignant cells. The same breakpoint could be detected in blood samples taken as much as 5 years prior to diagnosis of T-PLL. This suggests a role for the abnormality in the tumour development in this patient but implies that other mutational events were necessary for overt disease to become manifest. Genes Chrom Cancer 5321-325 (1992).