Molecular analysis of single B cells from T-cell-rich B-cell lymphoma shows the derivation of the tumor cells from mutating germinal center B cells and exemplifies means by which immunoglobulin genes are modified in germinal center B cells

Blood. 1999 Apr 15;93(8):2679-87.

Abstract

T-cell-rich B-cell lymphoma (TCRBCL) belongs to the group of diffuse large cell lymphomas (DLL). It is characterized by a small number of tumor B cells among a major population of nonmalignant polyclonal T cells. To identify the developmental stage of the tumor progenitor cells, we micromanipulated the putative neoplastic large CD20(+) cells from TCRBCLs and amplified and sequenced immunoglobulin (Ig) V gene rearrangements from individual cells. In six cases, clonal Ig heavy, as well as light chain, gene rearrangements were amplified from the isolated B cells. All six cases harbored somatically mutated V gene rearrangements with an average mutation frequency of 15.5% for heavy (VH) and 5.9% for light (VL) chains and intraclonal diversity based on somatic mutation. These findings identify germinal center (GC) B cells as the precursors of the transformed B cells in TCRBCL. The study also exemplifies various means how Ig gene rearrangements can be modified by GC B cells or their malignant counterparts in TCRBCL: In one case, the tumor precursor may have switched from kappa to lambda light chain expression after acquiring a crippling mutation within the initially functional kappa light chain gene. In another case, the tumor cells harbor two in-frame VH gene rearrangements, one of which was rendered nonfunctional by somatic mutation. Either the tumor cell precursor entered the GC with two potentially functional in-frame rearrangements or the second VHDHJH rearrangement occurred in the GC after the initial in-frame rearrangement was inactivated by somatic mutation. Finally, in each of the six cases, at least one cell contained two (or more) copies of a clonal Ig gene rearrangement with sequence variations between these copies. The presence of sequence variants for V region genes within single B cells has so far not been observed in any other normal or transformed B lymphocyte. Fluorescence in situ hybridization (FISH) points to a generalized polyploidy of the tumor cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antigens, CD / immunology
  • Antigens, CD20 / immunology
  • Female
  • Gene Rearrangement*
  • Genes, Immunoglobulin*
  • Genetic Variation
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulin Light Chains / genetics*
  • Immunoglobulin kappa-Chains / genetics
  • Immunoglobulin lambda-Chains / genetics
  • Lymph Nodes / immunology
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, B-Cell / immunology*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • T-Lymphocytes / immunology*

Substances

  • Antigens, CD
  • Antigens, CD20
  • Immunoglobulin Heavy Chains
  • Immunoglobulin Light Chains
  • Immunoglobulin kappa-Chains
  • Immunoglobulin lambda-Chains

Associated data

  • GENBANK/AJ130895
  • GENBANK/AJ130896
  • GENBANK/AJ130897
  • GENBANK/AJ130898
  • GENBANK/AJ130899
  • GENBANK/AJ130900
  • GENBANK/AJ130901
  • GENBANK/AJ130902
  • GENBANK/AJ130903
  • GENBANK/AJ130904
  • GENBANK/AJ130905
  • GENBANK/AJ130906
  • GENBANK/AJ130907
  • GENBANK/AJ130908
  • GENBANK/AJ130909
  • GENBANK/AJ130910
  • GENBANK/AJ130911
  • GENBANK/AJ130912
  • GENBANK/AJ130913
  • GENBANK/AJ130914