Cellular origin and pathophysiology of chronic lymphocytic leukemia

J Exp Med. 2012 Nov 19;209(12):2183-98. doi: 10.1084/jem.20120833. Epub 2012 Oct 22.

Abstract

The cellular origin of chronic lymphocytic leukemia (CLL) is still debated, although this information is critical to understanding its pathogenesis. Transcriptome analyses of CLL and the main normal B cell subsets from human blood and spleen revealed that immunoglobulin variable region (IgV) gene unmutated CLL derives from unmutated mature CD5(+) B cells and mutated CLL derives from a distinct, previously unrecognized CD5(+)CD27(+) post-germinal center B cell subset. Stereotyped V gene rearrangements are enriched among CD5(+) B cells, providing independent evidence for a CD5(+) B cell derivation of CLL. Notably, these CD5(+) B cell populations include oligoclonal expansions already found in young healthy adults, putatively representing an early phase in CLL development before the CLL precursor lesion monoclonal B cell lymphocytosis. Finally, we identified deregulated proteins, including EBF1 and KLF transcription factors, that were not detected in previous comparisons of CLL and conventional B cells.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Analysis of Variance
  • B-Lymphocyte Subsets / metabolism*
  • CD5 Antigens / metabolism
  • Cluster Analysis
  • Flow Cytometry
  • Gene Expression Profiling
  • Gene Rearrangement, B-Lymphocyte / genetics*
  • Humans
  • Immunoglobulin Variable Region / genetics*
  • Kruppel-Like Transcription Factors / metabolism
  • Leukemia, Lymphocytic, Chronic, B-Cell / etiology*
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / physiopathology*
  • Lymphocytosis / genetics*
  • Microscopy, Fluorescence
  • Mutation / genetics
  • Oligonucleotides / genetics
  • Principal Component Analysis
  • Trans-Activators / metabolism
  • Tumor Necrosis Factor Receptor Superfamily, Member 7 / metabolism

Substances

  • CD5 Antigens
  • EBF1 protein, human
  • Immunoglobulin Variable Region
  • Kruppel-Like Transcription Factors
  • Oligonucleotides
  • Trans-Activators
  • Tumor Necrosis Factor Receptor Superfamily, Member 7
  • erythroid Kruppel-like factor