Analysis of BCL-6 mutations in classic Hodgkin disease of the B- and T-cell type

Blood. 2001 Apr 15;97(8):2401-5. doi: 10.1182/blood.v97.8.2401.

Abstract

BCL-6 is essential for germinal center formation and thus for affinity maturation of immunoglobulin (Ig) genes by somatic mutations. The 5'-noncoding region of the BCL-6 gene is even a target for the mutation machinery. Translocations of the BCL-6 gene to heterologous promoters and mutations of its 5'-noncoding regulatory region were reported to be potential mechanisms for deregulating BCL-6 expression and for playing a role in the genesis of non-Hodgkin lymphoma. In line with this hypothesis is the observation that B-cell lymphoma with somatic mutations, such as diffuse large B-cell lymphoma and follicular lymphoma, also carry BCL-6 mutations, some of which are recurrently detectable. Classic Hodgkin disease (cHD) is also derived from B cells with high loads of somatic mutations and thus a further candidate for BCL-6 mutations. To determine the presence and potential role of BCL-6 mutations in cHD, the 5'-noncoding BCL-6 proportion of single Hodgkin and Reed-Sternberg (HRS) cells from 6 cases of cHD and 6 cases of HD-derived cell lines was analyzed. All B-cell-derived HD cases and cell lines harbored BCL-6 mutations. In contrast, both T-cell-derived HD cases and cell lines were devoid of BCL-6 mutations. With only one exception, there were no lymphoma-specific recurrent BCL-6 mutations detected, and BCL-6 protein was absent from the HRS cells of most cases. In conclusion, (1) somatic BCL-6 mutations are restricted to cHD cases of B-cell origin, and (2) the BCL-6 mutations represent mostly irrelevant somatic base substitutions without consequences for BCL-6 protein expression and the pathogenesis of cHD.

Publication types

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

MeSH terms

  • 5' Untranslated Regions
  • Adult
  • Aged
  • B-Lymphocytes / pathology*
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • DNA-Binding Proteins / analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Genes, Immunoglobulin
  • Genotype
  • Hodgkin Disease / classification
  • Hodgkin Disease / genetics*
  • Hodgkin Disease / pathology
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Proteins / analysis
  • Neoplasm Proteins / genetics*
  • Point Mutation
  • Proto-Oncogene Proteins / analysis
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-bcl-6
  • Reed-Sternberg Cells / chemistry
  • T-Lymphocytes / pathology*
  • Transcription Factors / analysis
  • Transcription Factors / genetics*
  • Tumor Cells, Cultured

Substances

  • 5' Untranslated Regions
  • DNA, Neoplasm
  • DNA-Binding Proteins
  • Immunoglobulin Heavy Chains
  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-bcl-6
  • Transcription Factors