The mutator pathway is a feature of immunodeficiency-related lymphomas

Proc Natl Acad Sci U S A. 2004 Apr 6;101(14):5002-7. doi: 10.1073/pnas.0400945101. Epub 2004 Mar 26.

Abstract

The mutator phenotype caused by defects in the mismatch repair system is observed in a subset of solid neoplasms characterized by widespread microsatellite instability-high (MSI-H). It is known to be very rare in non-Hodgkin lymphomas (NHL), whereas mutator NHL is the most frequent tumor subtype in mismatch repair-deficient mice. By screening a series of 603 human NHL with specific markers of the mutator phenotype, we found here 12 MSI-H cases (12/603, 2%). Of interest, we demonstrated that this phenotype was specifically associated with immunodeficiency-related lymphomas (ID-RL), because it was observed in both posttransplant lymphoproliferative disorders (9/111, 8.1%) and HIV infection-related lymphomas (3/128, 2.3%) but not in a large series of NHL arising in the general population (0/364) (P < 0.0001). The MSI pathway is known to lead to the production of hundreds of abnormal protein neoantigens that are generated in MSI-H neoplasms by frameshift mutations of a number of genes containing coding microsatellite sequences. As expected, MSI-H ID-RL were found to harbor such genetic alterations in 12 target genes with a putative role in lymphomagenesis. The observation that the MSI-H phenotype was restricted to HIV infection-related lymphomas and posttransplant lymphoproliferative disorders suggests the existence of the highly immunogenic mutator pathway as a novel oncogenic process in lymphomagenesis whose role is favored when host immunosurveillance is reduced. Because MSI-H-positive cases were found to be either Epstein-Barr virus-positive or -negative, the mutator pathway should act synergistically or not with this other oncogenic factor, playing an important role in ID-RL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Base Sequence
  • DNA Primers
  • Female
  • Frameshift Mutation*
  • HIV Infections / complications*
  • Herpesvirus 4, Human / isolation & purification
  • Humans
  • Immunocompromised Host*
  • Lymphoma, Non-Hodgkin / complications
  • Lymphoma, Non-Hodgkin / genetics*
  • Lymphoma, Non-Hodgkin / virology
  • Male
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Phenotype

Substances

  • DNA Primers