Somatically mutated Ig V(H)3-21 genes characterize a new subset of chronic lymphocytic leukemia

Blood. 2002 Mar 15;99(6):2262-4. doi: 10.1182/blood.v99.6.2262.


Recent studies on the immunoglobulin variable heavy chain (IgV(H)) genes have revealed that B-cell chronic lymphocytic leukemia (B-CLL) consists of at least 2 clinical entities with either somatically mutated or unmutated V(H) genes. We have analyzed the V(H) gene mutation status and V(H) gene usage in 119 B-CLL cases and correlated them to overall survival. A novel finding was the preferential use of the V(H)3-21 gene in mutated cases, whereas biased V(H)1-69 gene usage was found in unmutated cases as previously reported. Interestingly, the subset of mutated cases using the V(H)3-21 gene displayed distinctive genotypic/phenotypic characteristics with shorter average length of the complementarity determining region 3 and clonal expression of lambda light chains. In addition, this mutated subset showed significantly shorter survival than other mutated cases and a similar clinical course to unmutated cases. We therefore suggest that B-CLL cases with mutated V(H)3-21 genes may constitute an additional entity of B-CLL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Complementarity Determining Regions / genetics
  • Female
  • Genes, Immunoglobulin / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Immunoglobulin lambda-Chains
  • Leukemia, Lymphocytic, Chronic, B-Cell / classification*
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / immunology
  • Male
  • Mutation*
  • Phenotype
  • Survival Rate


  • Complementarity Determining Regions
  • Immunoglobulin lambda-Chains