Cold agglutinin–associated B-cell lymphoproliferative disease shows highly recurrent gains of chromosome 3 and 12 or 18
Agnieszka Małecka, Jan Delabie, Ingunn Østlie, Anne Tierens, Ulla Randen, Sigbjørn Berentsen, Geir E. Tjønnfjord, Gunhild Trøen
Abstract
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. Immunoglobulins are almost exclusively encoded by heavy chain variable gene IGHV4-34 and mostly by k light chain variable gene IGKV3-20 or similar IGHV3-15. We recently revealed recurrent KMT2D and CARD11 gene mutations in CAD-associated B-cell lymphoproliferative disease. romosome instability is one of the hallmarks of cancer, and it has implications in disease diagnostics, prognostics, and response to therapy. Copy number variations (CNVs), a gain or loss of copies of DNA segments larger than 1 kb in length, are associated with chromosome instability. Chromosome instability has not been studied in great detail in CAD. 8]