title: Molecular analysis of a new translocation, t(X;14)(q28;q11), in premalignancy and in leukaemia associated with ataxia telangiectasia.
abstract: 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.
mesh_terms: D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D004273:DNA, Neoplasm / Q000097:blood; D005260:Female; D006801:Humans; D015463:Leukemia, Prolymphocytic / Q000209:etiology / Q000235:genetics*; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000209:etiology / Q000235:genetics*; D011230:Precancerous Conditions / Q000235:genetics*; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics*; D013997:Time Factors; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D004273:DNA, Neoplasm; D016693:Receptors, Antigen, T-Cell, alpha-beta