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Title: | Frequent polymorphic changes but not mutations of TRAIL receptors DR4 and DR5 in mantle cell lymphoma and other B-cell lymphoid neoplasms |
Author: | Fernàndez Pascual, Verònica Jares Gerboles, Pedro Beà Bobet, Sílvia M. Salaverria Frigola, Itziar Guinó, Elisabet Sanjosé Llongueras, Silvia de Colomer Pujol, Dolors Ott, German Montserrat Costa, Emilio Campo Güerri, Elias |
Keywords: | Limfomes Cèl·lules B Genètica Lymphomas B cells Genetics |
Issue Date: | 1-Nov-2004 |
Publisher: | Ferrata Storti Foundation |
Abstract: | Background 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. |
Note: | Reproducció del document publicat a: https://haematologica.org/issue/view/124 |
It is part of: | Haematologica, 2004, vol. 89, num. 11, p. 1322-1331 |
URI: | http://hdl.handle.net/2445/172722 |
ISSN: | 0390-6078 |
Appears in Collections: | Articles publicats en revistes (Fonaments Clínics) Articles publicats en revistes (Medicina) Articles publicats en revistes (Ciències Clíniques) |
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