The ATM gene and susceptibility to childhood T-cell acute lymphoblastic leukaemia

Br J Haematol. 1998 Nov;103(2):536-8. doi: 10.1046/j.1365-2141.1998.00993.x.


Ataxia-telangiectasia (A-T) is a multisystem recessive disease characterized by cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency and increased risk of cancer. The ATM gene, responsible for A-T, was recently cloned at human chromosome band 11q22-23, a region of frequent alterations in childhood acute lymphoblastic leukaemia (ALL). Children with A-T frequently develop T-ALL. We investigated 18 T-ALL samples for ATM mutations and loss of heterozygosity (LOH) at the ATM locus. No mutations of ATM were found within the coding region in the 18 T-ALL samples, and LOH at the ATM locus was detected in three. The ATM gene appears to be an infrequently altered tumour suppressor gene in childhood T-ALL.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins
  • Cell Cycle Proteins
  • Child
  • Chromosomes, Human, Pair 11
  • DNA-Binding Proteins
  • Genes, Tumor Suppressor / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Leukemia-Lymphoma, Adult T-Cell / genetics*
  • Loss of Heterozygosity
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Protein-Serine-Threonine Kinases*
  • Proteins / genetics*
  • Tumor Suppressor Proteins


  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein-Serine-Threonine Kinases