Journal of Hematopathology

, 4:149 | Cite as

New insights into the pathobiology of chronic lymphocytic leukemia

Review Article


Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with a varying clinical outcome; however, the pathogenic mechanisms involved in disease development have remained largely unknown. In recent years, novel biomarkers, such as certain recurrent genomic alterations and the immunoglobulin heavy variable gene mutational status, have significantly improved the subdivision of the disease along with the prognostic assessment of individual patients. Advanced molecular studies have also revealed important genetic/epigenetic events and potential susceptibility loci for CLL, as well as implicating antigens in CLL development. Furthermore, the presence of monoclonal B cell lymphocytosis (MBL) has been demonstrated to precede CLL and appears to be a pre-leukemic condition. In this review, we will not only focus on recent developments made in the fields of genetics and immunogenetics in CLL, but also provide a brief overview of MBL, since we believe that advancements in these areas will have a major impact on our understanding of CLL pathobiology.


Chronic lymphocytic leukemia Pathogenesis Genetic aberrations Epigenetics Susceptibility loci Immunoglobulin genes Antigens Monoclonal B cell lymphocytosis 



This work was supported by the Nordic Cancer Union, the Swedish Cancer Society, the Swedish Research Council, the Medical Faculty of Uppsala University, Uppsala University Hospital, and Lion's Cancer Research Foundation in Uppsala, Sweden. The authors are grateful to Lesley-Ann Sutton for critical reading of the manuscript. The authors declare that they have no conflict of interest.


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© Springer-Verlag 2011

Authors and Affiliations

  1. 1.Department of Immunology, Genetics and Pathology, Rudbeck LaboratoryUppsala UniversityUppsalaSweden

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