title: Mutations within the 5' region of FAS/CD95 gene in nodal diffuse large B-cell lymphoma.
abstract: CD95 is a cell-surface receptor that mediates apoptosis. A possible association between CD95 mutations and extranodal diffuse large B-cell lymphomas (DLBCL) has been reported. To further elucidate this question, a mutation analysis within the 5' region and exon 9 of CD95 was performed in a series of 66 DLBCL patients, by polymerase chain reaction, single-strand conformational polymorphism, and sequencing in all cases. Four mutations, all within the 5' region, were detected in three cases of primary nodal DLBCL (6.3% of primary DLBCL), probably originated as by-products of the somatic hypermutation process. No CD95 mutations in the two analyzed regions were detected in primary extranodal DLBCL, mediastinal large B-cell lymphoma (MLBCL), and DLBCL arising from indolent low-grade lymphomas. Because of our results, a review of published data with respect to the site of mutations was performed, which suggested a different distribution of mutations in nodal and extranodal DLBCL.
authors.affiliation: Bone Marrow Transplantation Centre (CEMO), Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
authors.forename: Vanesa
authors.initials: V
authors.lastname: Scholl
authors.forename: Claudio Gustavo
authors.initials: CG
authors.lastname: Stefanoff
authors.forename: Rocio
authors.initials: R
authors.lastname: Hassan
authors.forename: Nelson
authors.initials: N
authors.lastname: Spector
authors.forename: Ilana Zalcberg
authors.initials: IZ
authors.lastname: Renault
mesh_terms: D017209:Apoptosis; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018450:Disease Progression; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008207:Lymphatic Metastasis; D016393:Lymphoma, B-Cell / Q000235:genetics*; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics*; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D019014:fas Receptor / Q000235:genetics*
chemical_list: D019014:fas Receptor