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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;q11). 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 alpha chain gene on chromosome 14 at band q11 and in a region of the X chromosome, within about 1 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.

Original publication




Journal article


Genes Chromosomes Cancer

Publication Date





321 - 325


Adult, Ataxia Telangiectasia, Cell Transformation, Neoplastic, Chromosomes, Human, Pair 14, DNA, Neoplasm, Female, Humans, Leukemia, Prolymphocytic, Leukemia-Lymphoma, Adult T-Cell, Precancerous Conditions, Receptors, Antigen, T-Cell, alpha-beta, Time Factors, Translocation, Genetic, X Chromosome