Translocation 8;14 in an ataxia telangiectasia-derived cell line

Abstract

THE incidence of lymphomas is 10,000 times greater than normal in patients with immunodeficiency syndromes¹ and also in ataxia telangiectasia (AT), which very often involves IgA deficiency². In addition to its other characteristic features, AT is usually associated with a defect in DNA repair³ and a translocation involving chromosome 14 in the peripheral leukocytes⁴. Another feature is a high prevalence of Epstein–Barr virus early antigen (EBV-EA) antibodies⁵ in the sera of AT patients. This is significantly higher than in normal human sera (<10%) and resembles that found in cases of Burkitt's lymphoma (BL). It is thus interesting that translocations involving chromosome 14 have been described in BL cells as well as in other lymphomatous cells^6–8. This chromosome marker is also found in BL cell lines containing EB V⁹. It is not induced by EBV alone, however, because it is not found in EBV-positive, but non-lymphomatous cell lines, established spontaneously or by transformation of normal peripheral blood leukocytes¹⁰. We have therefore investigated whether in BL and AT some target cells of EBV infection might be genetically ‘defective’ lymphoid cells that could more easily be transformed into malignant cells (with characteristic chromosome markers) when exposed to EBV or other carcinogens. To do this we infected lymphoid cells from AT patients in vitro with EBV, and we report here a translocation t(8q⁻; 14q⁺) established in one of the resulting cell lines.