Genetics and B-cell leukaemia

Abstract

B—cell chronic lymphocytic leukaemia (B-CLL) is the commonest form of leukaemia among elderly people. It is characterised by accumulation of mature B cells, lymphadenopathy, immunodeficiency, and bone-marrow deficiency. Findings at the cellular level include long cell survival, probably due to an inhibition of apoptosis. Mutations in the master controller of apoptosis, the p53 gene, have been found in 30 % of tumours. 1 Lens D Dyer MJ Garcia Marco JM et al. p53 abnormalities in CLL are associated with excess of prolymphocytes and poor prognosis. Br J Haematol. 1997; 99: 848-857 Crossref PubMed Scopus (98) Google Scholar , 2 Cordone I Masi S Mauro FR et al. p53 expression in B-cell chronic lymphocytic leukemia: a marker of disease progression and poor prognosis. Blood. 1998; 91: 4342-4349 PubMed Google Scholar Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemiaAbnormal expression of ATM protein is a frequent finding in B-CLL. Although the precise function of this protein is unknown, it is thought to have a role in programmed cell death, a deficiency of which would fit with the characteristic phenotype of prolonged cell survival seen in B-CLL tumour cells. Our results also suggest that carriers of ATM mutations may be at a particular risk for the development of B-CLL and this may partly explain the known genetic susceptibility to this disease. Full-Text PDF