Chronic lymphocytic leukemia patients with highly stable and indolent disease show distinctive phenotypic and genotypic features

Blood. 2003 Aug 1;102(3):1035-41. doi: 10.1182/blood-2002-12-3639. Epub 2003 Apr 3.

Abstract

Different biologic features have been associated with a more or less aggressive clinical course in chronic lymphocytic leukemia (CLL). In the present study, 20 patients with highly stable CLL observed at a single institution over a period of 10 to 23 years and who never required treatment were extensively characterized. The aim was to identify a distinct and reproducible biologic profile associated with disease stability that may be used to recognize at presentation CLL patients who are likely to have a very benign clinical course and for whom treatment is not indicated. The results obtained indicate that numerous parameters are closely associated with disease stability: a typical CLL morphology and immunophenotype, the lack of expression of the CD38 antigen, the mutated immunoglobulin (Ig) heavy (H) chain variable (V) pattern, the absence of p53 mutations, a CD4/CD8 ratio more than 1, the lack of 17p and 11q deletions and of complex karyotypic aberrations, and the occurrence of the 13q14 deletion. No case displayed the VH3-21 gene, linked in mutated CLL with a poor outcome. In addition, the VH1-69 gene associated with unmutated CLL cases was never detected. These biologic features were coupled with an indolent clinical course characterized by an unmodified clinical stage over time, and by lack of autoimmune phenomena and of major infections requiring parental antibiotics. At a time when aggressive therapeutic strategies are always more frequently used in the management of CLL, the distinctive features of patients with long-lived stable disease should be prospectively identified at presentation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ADP-ribosyl Cyclase / analysis
  • ADP-ribosyl Cyclase 1
  • Aged
  • Antigens, CD / analysis
  • Biomarkers
  • CD4-CD8 Ratio
  • Chromosome Aberrations
  • Cytogenetic Analysis*
  • DNA-Binding Proteins / genetics
  • Female
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • Immunophenotyping*
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / immunology
  • Leukemia, Lymphocytic, Chronic, B-Cell / pathology*
  • Male
  • Membrane Glycoproteins
  • Middle Aged
  • Mutation
  • Prognosis
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-bcl-6
  • Somatic Hypermutation, Immunoglobulin
  • Survivors
  • Transcription Factors / genetics
  • Tumor Suppressor Protein p53 / genetics

Substances

  • Antigens, CD
  • Biomarkers
  • DNA-Binding Proteins
  • Immunoglobulin Heavy Chains
  • Membrane Glycoproteins
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-bcl-6
  • Transcription Factors
  • Tumor Suppressor Protein p53
  • ADP-ribosyl Cyclase
  • CD38 protein, human
  • ADP-ribosyl Cyclase 1