Cold agglutinin–associated B-cell lymphoproliferative disease shows highly recurrent gains of chromosome 3 and 12 or 18

摘要

Primary cold agglutinin disease (CAD) is a rare autoimmune hemolytic anemia caused by a distinct type of B-cell lymphoproliferative disease of the bone marrow. We have recently evaluated the use of bendamustine-rituximab therapy for CAD and found that B cell–directed therapy is highly efficient and safe and may be considered first line therapy for relatively fit patients with CAD. Hemolysis is mediated by binding of monoclonal immunoglobulin M antibodies (cold agglutinins) to the erythrocyte surface I antigen at temperatures below central body temperature, followed by agglutination and complement classical pathway activation. Immunoglobulins are almost exclusively encoded by heavy chain variable gene and mostly by κ light chain variable gene or similar . We recently revealed recurrent and gene mutations in CAD-associated B-cell lymphoproliferative disease.