Mutational analysis of PRDM1 indicates a tumor-suppressor role in diffuse large B-cell lymphomas

Blood. 2006 May 15;107(10):4090-100. doi: 10.1182/blood-2005-09-3778. Epub 2006 Jan 19.

Abstract

The PR (PRDI-BF1-RIZ) domain zinc finger protein 1 (PRDM1) is a transcription repressor with a pivotal role in plasma-cell differentiation. We identified clonal inactivating mutations in PRDM1 in the diffuse large B-cell lymphoma (DLBCL) cell line OCI-Ly3 and in 8 of 35 de novo clinical DLBCL samples. The mutational spectrum consists predominantly (7 cases) of single-nucleotide mutations affecting consensus splice donor sites, some of which are recurrent, that lead to splicing aberrations and premature translation termination. In 2 of these cases, point mutations appear to be caused by RNA editing with G-to-A and U-to-G conversions. Other mutations include frame-shift deletion and chromosomal inversion. Except for one mutant, which may act as a dominant-negative, all mutations are associated with either deletion or silencing of the paired PRDM1 allele. This study identifies PRDM1 inactivation as a recurrent genetic defect in DLBCL cells and establishes PRDM1 as a potential tumor suppressor gene in DLBCL. Moreover, it implies inhibition of terminal differentiation as a pathogenetic pathway in DLBCL, particularly for the activated B-cell-like DLBCL. It also demonstrates for the first time the potential role of RNA editing in lymphomagenesis.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Line, Tumor
  • Cell Nucleus / genetics
  • DNA Primers
  • Exons
  • Genes, Tumor Suppressor
  • Humans
  • Introns
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Lymphoma, Non-Hodgkin / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Positive Regulatory Domain I-Binding Factor 1
  • Repressor Proteins / genetics*
  • Transcription Factors / genetics*

Substances

  • DNA Primers
  • Repressor Proteins
  • Transcription Factors
  • PRDM1 protein, human
  • Positive Regulatory Domain I-Binding Factor 1