Identification of somatic hypermutations in the TP53 gene in B-cell chronic lymphocytic leukemia

Mol Immunol. 2008 Mar;45(5):1525-9. doi: 10.1016/j.molimm.2007.08.017. Epub 2007 Oct 24.

Abstract

Abnormalities of the TP53 gene are associated with a particularly severe prognosis in patients with B-cell chronic lymphocytic leukemia (B-CLL). This tumor-suppressor is mostly inactivated by the deletion of one and point mutation of the other allele and has not been previously shown to be hypermutated in B-CLL. We identified two patients whose lymphocytes showed repeatedly an extensive proportion of TP53 mutated cells by FASAY analysis (the yeast functional assay) and harbored various TP53 mutations, mostly single-base substitutions, in individual cells. The mutation targeting exhibited characteristic traits of the somatic hypermutation process. In the first patient (harboring the unmutated IgVH locus) a significant bias to point mutations at CG pairs (21/25; P=0.009), their remarkable preference for the RGYW/WRCY motives (28%) and the highest expression of the activation-induced cytidine deaminase (AID) mRNA among the 34 tested B-CLL samples. In the second patient no CG bias was observed but the targeting of point mutations into the RGYW/WRCY motives was even more prominent here (7/16; 44%). Moreover, six out of eight point mutations affecting AT pairs were localized in the WA/TW motives, which are also characteristic for the somatic hypermutations. This patient, who was IgVH-mutated, already did not express any significant amount of the AID transcript. Our findings add a new aspect to the mosaic of the p53 mutability in B-CLL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytidine Deaminase / genetics
  • Genes, p53*
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Lymphocytes / pathology
  • Mutation*
  • Point Mutation
  • Somatic Hypermutation, Immunoglobulin

Substances

  • Cytidine Deaminase