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

• 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.

Nyckelord

Aged

Complementarity Determining Regions/genetics

Female

Genes; Immunoglobulin/*genetics

Genetic Screening

Genotype

Humans

Immunoglobulins; lambda-Chain

Leukemia; Lymphocytic; Chronic/*classification/*genetics/immunology

Male

Mutation

Phenotype

Research Support; Non-U.S. Gov't

Survival Rate

MEDICINE

MEDICIN

Publikations- och innehållstyp

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