High expression of activation-induced cytidine deaminase (AID) and splice variants is a distinctive feature of poor-prognosis chronic lymphocytic leukemia

Blood. 2003 Jun 15;101(12):4903-8. doi: 10.1182/blood-2002-09-2906. Epub 2003 Feb 13.

Abstract

In chronic lymphocytic leukemia (CLL), analysis of immunoglobulin heavy chain variable regions for somatic hypermutation identifies 2 prognostic subsets, mutated and unmutated. Investigators have postulated that unmutated and mutated CLL arises from malignant transformation of pre- and post-germinal center (GC) B cells, respectively. Alternatively, unmutated cases may arise from B cells stimulated by T-cell-independent antigens or from GC B cells with inactive somatic hypermutation. Activation-induced cytidine deaminase (AID), a protein essential for somatic hypermutation, is expressed by GC B cells in which this process occurs. We investigated AID mRNA expression in 20 CLL cases. In 8 cases we detected high expression of wild-type AID mRNA and 2 splice variants; in 12 cases and 5 normal peripheral blood B-cell samples we detected no expression using standard conditions. Of 8 CLL cases that highly expressed AID, 7 were unmutated, suggesting that this subset may arise from GC-experienced B cells with inactive somatic hypermutation, and may predict prognosis.

MeSH terms

  • Alternative Splicing*
  • Amino Acid Sequence
  • B-Lymphocytes / chemistry
  • B-Lymphocytes / metabolism
  • Base Sequence
  • Cytidine Deaminase / chemistry
  • Cytidine Deaminase / genetics*
  • Gene Expression*
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • Immunoglobulin Variable Region / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Prognosis
  • RNA, Messenger / analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA

Substances

  • Immunoglobulin Heavy Chains
  • Immunoglobulin Variable Region
  • RNA, Messenger
  • Cytidine Deaminase