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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
B cells
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:
It is part of: Haematologica, 2004, vol. 89, num. 11, p. 1322-1331
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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