Immunoglobulin gene sequence analysis in chronic lymphocytic leukemia: updated ERIC recommendations

This is the authors' abstract. We don't add key points for this paper.

Pivotal studies from the 1990s offered the first pieces of evidence for the role of immunoglobulin (IG) receptors and antigen stimulation in the natural history of chronic lymphocytic leukemia (CLL). 2] Of note, within the clinical arena, IGHV mutation burden enabled the accurate prediction of the clinical course of the disease based on the level of SHM within the expressed IGHV genes. It has subsequently been shown that U-CLL is markedly different from M-CLL not only regarding the clinical course, but also in terms of biological features: the former is associated with adverse prognostic genomic aberrations, increased BcR signaling capacity, shorter time to progression and an overall inferior outcome compared to M-CLL. n hindsight, these studies represent true landmarks in the understanding of CLL, forming the cornerstone for an immunologically oriented view of CLL ontogeny and evolution. 1] For instance, stereotyped subset #2 (IGHV3-21/ IGLV3-21) has emerged as a prototype of aggressive disease independently of the SHM load. dditional evidence for the importance of immunogenetic analysis in CLL was provided by three recent independent studies demonstrating that the SHM status of the IGHV genes was