title: A novel splice variant of the Fas gene in patients with cutaneous T-cell lymphoma.
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.
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D017398:Alternative Splicing; D001706:Biopsy; D005260:Female; D006801:Humans; D016410:Lymphoma, T-Cell, Cutaneous / Q000235:genetics* / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009367:Neoplasm Staging; D017354:Point Mutation; D019014:fas Receptor / Q000096:biosynthesis / Q000235:genetics* / Q000276:immunology
chemical_list: D019014:fas Receptor