Ataxia telangiectasia gene mutations in leukaemia and lymphoma

摘要

Ataxia telangiectasia (AT) is a rare multi- system, autosomal, recessive disease characterised by neuronal degeneration, genome instability, and an increased risk of cancer. Approximately 10/100 of AT homozygotes develop cancer, mostly of the lymphoid system. Lymphoid malignancies in patients with AT are of both B cell and T cell origin, and include Hodgkin's lymphoma, non-Hodgkin's lymphoma, and several forms of leukaemia.