title: Clonal evolution of T-cell chronic lymphocytic leukaemia in a patient with ataxia telangiectasia.
abstract: Ataxia telangiectasia (A-T) is an autosomal recessive disorder in which patients show an unusual predisposition to malignant disease, including T-cell chronic lymphocytic leukaemia. We report here the steady growth over 5 years of a complex, cytogenetically abnormal clone of T lymphocytes in an A-T patient who was subsequently found to have an OKT3/OKT8 chronic lymphocytic leukaemia. The tumour cells at diagnosis had clearly evolved from a pre-existing, cytogenetically abnormal T-cell clone which contained an inv(14) chromosomal inversion alone.
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D006801:Humans; D007621:Karyotyping; D007945:Leukemia, Lymphoid / Q000209:etiology*; D013601:T-Lymphocytes / Q000276:immunology / Q000648:ultrastructure*; D014178:Translocation, Genetic