High expression of activation-induced cytidine deaminase (AID) mRNA is associated with unmutated IGVH gene status and unfavourable cytogenetic aberrations in patients with chronic lymphocytic leukaemia

Leukemia. 2004 Apr;18(4):756-62. doi: 10.1038/sj.leu.2403294.


Activation-induced cytidine deaminase (AID) is essential for somatic hypermutation of B-cells. We investigated the expression of AID mRNA by real-time polymerase chain reaction (PCR) in peripheral blood mononuclear cells of 80 patients with B-CLL. AID expression was detected in 45 of 80 patients (56%) at various levels, but was undetectable in 35 patients (44%). AID PCR positivity was associated with unmutated IGV(H) gene status (22 of 25 patients; P=0.002) and unfavourable cytogenetics (18 of 23 patients with deletion in 11q or loss of p53; P=0.040). Using a threshold level of 0.01-fold expression compared to Ramos control cells, even more significant associations were observed (P=0.001 for IGVH; P=0.002 for cytogenetics). A correlation was observed between individual AID levels and the percentage of V(H) homology (R=0.41; P=0.001). AID positivity predicted unmutated IGV(H) status with an odds ratio of 8.31 (P=0.003) and poor risk cytogenetics with an odds ratio of 3.46 (P=0.032). Significance was retained after adjustment for Binet or Rai stages. AID mRNA levels were stable over time. These data suggest a potential role of AID as a prognostic marker in B-CLL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / analysis
  • Chromosome Aberrations*
  • Cytidine Deaminase / biosynthesis
  • Cytidine Deaminase / genetics*
  • Disease Progression
  • Female
  • Humans
  • Immunoglobulin Variable Region / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / diagnosis
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymerase Chain Reaction / methods
  • Prognosis
  • RNA, Messenger / analysis
  • RNA, Messenger / biosynthesis
  • RNA, Neoplasm / analysis*
  • Somatic Hypermutation, Immunoglobulin


  • Biomarkers
  • Immunoglobulin Variable Region
  • RNA, Messenger
  • RNA, Neoplasm
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase