title: Retinoblastoma-related geneRb2/p130 are rarely mutated in Burkitt's lymphoma from Brazil.
abstract: It has been suggested that alterations of cell cycle genes probably contribute to the pathogenesis of endemic Burkitt's lymphoma (BL) in addition to c-MYC translocation. Mutations disrupting the normal nuclear localization signal of the retinoblastoma-related gene Rb2/p130 have been documented in BL cell lines and primary tumors from endemic areas. The aim of this study was to investigate the involvement of Rb2/p130 gene in the pathogenesis of sporadic BL in Brazil. DNA samples from 26 pediatric BL tumors and two healthy blood donors were screened by PCR amplification followed by single strand conformation polymorphism analysis of exons 19 and 20 (B domain) and exons 21 and 22 (C-terminus), where most of the point mutations in the Rb2/p130 gene were identified. No abnormal band shifts were present in the samples analyzed. We concluded that mutations in exons 19-22 of the Rb2/p130 are unlikely to be involved directly in the pathogenesis of sporadic Brazilian BL.
authors.affiliation: Serviço de Hematologia, Hospital do Câncer-Laboratório de Hematologia Celular e Molecular, Instituto Nacional de Câncer, Rio de Janeiro, Brazil. cklumb@inca.gov.br
authors.forename: C E
authors.initials: CE
authors.lastname: Klumb
authors.forename: E P S
authors.initials: EP
authors.lastname: Magluta
authors.forename: L M M
authors.initials: LM
authors.lastname: Rezende
authors.forename: A G
authors.initials: AG
authors.lastname: Apa
authors.forename: J F S
authors.initials: JF
authors.lastname: Alonso
authors.forename: R C
authors.initials: RC
authors.lastname: Maia
mesh_terms: D001938:Brazil; D002051:Burkitt Lymphoma / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D050717:Retinoblastoma-Like Protein p130 / Q000235:genetics*
chemical_list: C493837:RBL2 protein, human; D050717:Retinoblastoma-Like Protein p130; D004247:DNA