Genomic rearrangements involving programmed death ligands are recurrent in primary mediastinal large B-cell lymphoma

Blood. 2014 Mar 27;123(13):2062-5. doi: 10.1182/blood-2013-10-535443. Epub 2014 Feb 4.

Abstract

The pathogenesis of primary mediastinal large B-cell lymphoma (PMBCL) is incompletely understood. Recently, specific genotypic and phenotypic features have been linked to tumor cell immune escape mechanisms in PMBCL. We studied 571 B-cell lymphomas with a focus on PMBCL. Using fluorescence in situ hybridization here, we report that the programmed death ligand (PDL) locus (9p24.1) is frequently and specifically rearranged in PMBCL (20%) as compared with diffuse large B-cell lymphoma, follicular lymphoma, and Hodgkin lymphoma. Rearrangement was significantly correlated with overexpression of PDL transcripts. Utilizing high-throughput sequencing techniques, we characterized novel translocations and chimeric fusion transcripts involving PDLs at base-pair resolution. Our data suggest that recurrent genomic rearrangement events underlie an immune privilege phenotype in a subset of B-cell lymphomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • B7-H1 Antigen / genetics*
  • Cell Line, Tumor
  • Chromosomes, Human, Pair 9
  • DNA Copy Number Variations
  • Gene Expression Regulation, Neoplastic
  • Gene Frequency
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphoma, Large B-Cell, Diffuse / epidemiology
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Mediastinal Neoplasms / epidemiology
  • Mediastinal Neoplasms / genetics*
  • Mutation
  • Programmed Cell Death 1 Ligand 2 Protein / genetics*
  • Translocation, Genetic*

Substances

  • B7-H1 Antigen
  • CD274 protein, human
  • PDCD1LG2 protein, human
  • Programmed Cell Death 1 Ligand 2 Protein