Rare lymphoid neoplasms coexpressing B- and T-cell antigens. The role of PAX-5 gene methylation in their pathogenesis

Hum Pathol. 2009 Sep;40(9):1252-61. doi: 10.1016/j.humpath.2009.01.007. Epub 2009 Apr 14.

Abstract

We report 3 cases of lymphoid neoplasms with mixed lineage features of T-, NK-, or B-cell marker expression and clonal gene rearrangement for both T-cell receptor and immunoglobulin light chain IgK. A characteristic of our cases was the lack of expression of the specific B-cell transcription factor, Pax5, which is essential for maintaining the identity and function of mature B cells during late B lymphopoiesis. In the absence of Pax5, B cells in vitro can differentiate into macrophages, dendritic cells, granulocytes, and T/NK cells. Methylation analysis of the Pax5 gene in our cases suggests that its inactivation by this epigenetic event in a committed or mature B cell, before plasma cell differentiation, may well be a common pathogenetic mechanism in mature lymphoid neoplasms with expression of multilineage antigens. In particular, case 1 may represent a mixed NK- and B-cell lineage; and cases 2 and 3 may represent mixed T and B-cell lineage, respectively. Aberrations in the DNA methylation patterns are currently recognized as a hallmark of human cancer. Cases with aberrant phenotypes require molecular analysis for lineage assignment. Studies of such cases may be helpful to better elucidate whether they represent a distinct entity with clinical, immunophenotypic, and molecular characteristics or an incidental phenomenon during malignant transformation. Interestingly, these cases were all characterized by poor clinical outcome.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Antigens / immunology*
  • B-Lymphocytes / immunology*
  • Biomarkers / analysis
  • DNA Methylation
  • Fatal Outcome
  • Female
  • Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor / genetics
  • Humans
  • Immunoglobulin Light Chains / genetics
  • Immunohistochemistry
  • Immunophenotyping
  • Killer Cells, Natural / immunology
  • Lymphoma / etiology*
  • Lymphoma / genetics
  • Lymphoma / immunology*
  • Lymphoma / pathology
  • Male
  • Middle Aged
  • PAX5 Transcription Factor / genetics
  • PAX5 Transcription Factor / metabolism*

Substances

  • Antigens
  • Biomarkers
  • Immunoglobulin Light Chains
  • PAX5 Transcription Factor