A novel splice variant of the Fas gene in patients with cutaneous T-cell lymphoma

Cancer Res. 2002 Oct 1;62(19):5389-92.

Abstract

Defective apoptosis signaling has been implicated in the pathogenesis of primary cutaneous T-cell lymphomas (CTCLs), a group of malignancies derived from skin-homing T cells. An important mediator of apoptosis in T cells is the Fas receptor. We identified a novel splice variant of the Fas gene that displays retention of intron 5 and encodes a dysfunctional Fas protein in 13 of 22 patients (59%) in both early and advanced CTCL. Impairment of Fas-induced apoptosis resulting from aberrant splicing potentially contributes to the development and progression of CTCL by allowing continued clonal expansion of activated T cells and by reducing susceptibility to antitumor immune responses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alternative Splicing
  • Biopsy
  • Female
  • Humans
  • Lymphoma, T-Cell, Cutaneous / genetics*
  • Lymphoma, T-Cell, Cutaneous / immunology
  • Lymphoma, T-Cell, Cutaneous / metabolism
  • Lymphoma, T-Cell, Cutaneous / pathology
  • Male
  • Middle Aged
  • Mutation, Missense
  • Neoplasm Staging
  • Point Mutation
  • fas Receptor / biosynthesis
  • fas Receptor / genetics*
  • fas Receptor / immunology

Substances

  • fas Receptor