Analysis of immunoglobulin heavy and light chain variable genes in post-transplant lymphoproliferative disorders

Hematol Oncol. 2006 Dec;24(4):212-9. doi: 10.1002/hon.791.

Abstract

Post-transplant lymphoproliferative disorders (PTLD) derive from antigen-experienced B-cells and represent a major complication of solid organ transplantation. We characterized usage, mutation frequency and mutation pattern of immunoglobulin variable (IGV) gene rearrangements in 50 PTLD (polymorphic PTLD, n=10; diffuse large B-cell lymphoma, n=35; and Burkitt/Burkitt-like lymphoma, n=5). Among PTLD yielding clonal IGV amplimers, a functional IGV heavy chain (IGHV) rearrangement was found in 40/50 (80.0%) cases, whereas a potentially functional IGV light chain rearrangement was identified in 36/46 (78.3%) PTLD. By combining IGHV and IGV light chain rearrangements, 10/50 (20.0%) PTLD carried crippling mutations, precluding expression of a functional B-cell receptor (BCR). Immunohistochemistry showed detectable expression of IG light chains in only 18/43 (41.9%) PTLD. Failure to detect a functional IGV rearrangement associated with lack of IGV expression. Our data suggest that a large fraction of PTLD arise from germinal centre (GC)-experienced B-cells that display impaired BCR. Since a functional BCR is required for normal B-cell survival during GC transit, PTLD development may implicate rescue from apoptosis and expansion of B-cells that have failed the GC reaction. The high frequency of IGV loci inactivation appears to be a peculiar feature of PTLD among immunodeficiency-associated lymphoproliferations.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis / genetics
  • Burkitt Lymphoma / genetics*
  • Burkitt Lymphoma / metabolism
  • Burkitt Lymphoma / pathology
  • Female
  • Gene Expression Regulation, Leukemic
  • Gene Rearrangement, B-Lymphocyte, Heavy Chain / genetics
  • Gene Rearrangement, B-Lymphocyte, Light Chain / genetics
  • Germinal Center / metabolism
  • Germinal Center / pathology
  • Humans
  • Immunoglobulin G / biosynthesis
  • Immunoglobulin G / genetics
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulin Light Chains / biosynthesis
  • Immunoglobulin Light Chains / genetics*
  • Immunoglobulin Variable Region / biosynthesis
  • Immunoglobulin Variable Region / genetics*
  • Immunohistochemistry
  • Male
  • Mutation
  • Neoplasms, Second Primary / genetics*
  • Organ Transplantation*
  • Proto-Oncogene Proteins c-bcr / biosynthesis
  • Proto-Oncogene Proteins c-bcr / genetics
  • Somatic Hypermutation, Immunoglobulin / genetics

Substances

  • Immunoglobulin G
  • Immunoglobulin Heavy Chains
  • Immunoglobulin Light Chains
  • Immunoglobulin Variable Region
  • BCR protein, human
  • Proto-Oncogene Proteins c-bcr