Fernàndez Pascual, VerònicaJares Gerboles, PedroBeà Bobet, Sílvia M.Salaverria Frigola, ItziarGuinó, ElisabetSanjosé Llongueras, Silvia deColomer Pujol, DolorsOtt, GermanMontserrat Costa, EmilioCampo Güerri, Elias2020-12-142020-12-142004-11-010390-6078https://hdl.handle.net/2445/172722Background and objectives: tumor necrosis factor related apoptosis-inducing ligand (TRAIL) receptors DR4 and DR5 have been mapped to chromosome 8p21-22, a region frequently deleted in different lymphoid neoplasms. Design and methods: to investigate the potential alterations of these genes in lymphoid neoplasms, we examined the presence of gene mutations in exons 3, 4, and 9 in 69 cases with mantle cell lymphoma (MCL), 16 with chronic lymphocytic leukemia (CLL), 12 with follicular lymphomas (FL) and 17 with large B-cell-lymphomas (DLBCL), as well as in 4 lymphoid cell lines carrying the t(11;14) translocation, and 91 healthy blood donors. Results: three CLL and three MCL cases had 8p deletions. Two nucleotide changes in or near the intron 3 splice consensus sequence and a silent change were found. These rare changes were also present in the germ-line of the patients. The DR4 death domain A1322G polymorphism was significantly more frequent in MCL [odds ratio (OR) = 5.9; 95% confidence interval (CI), 1.92-18.1] and CLL (OR = 4.5; CI, 1.18-17) patients than in a sex and age-adjusted healthy population. In contrast, the DR4 exon 4 C626G polymorphism was associated with a significant overall decreased risk for MCL (OR = 0.3; CI, 0.12-0.8). No mutations or cancer-associated polymorphic changes were found in DR5 domains. Interpretation and conclusions: these findings indicate that mutations of DR4 and DR5 are uncommon in lymphoid neoplasms but DR4 polymorphic alleles may contribute to the pathogenesis of these malignancies.10 p.application/pdfeng(c) Ferrata Storti Foundation, 2004LimfomesCèl·lules BGenèticaLymphomasB cellsGeneticsinfo:eu-repo/semantics/article5379572020-12-14info:eu-repo/semantics/openAccess15531454