title: Novel small deletions of the p53 gene in late-stage B-cell chronic lymphocytic leukaemia.
abstract: A group of 20 CLL patients selected for advanced clinical stage p53 mutations were analysed by single-strand conformational polymorphism (SSCP) following PCR amplification of exons 5-9. In two patients abnormal SSCP of either exon 5 or exon 8 was found and PCR products were analysed by direct sequencing. A hemizygous or homozygous 12bp deletion at codon 135 and 3bp heterozygous deletion at codon 264 were detected; also, in the latter sample a heterozygous mutation at codon 282 (Arg to Gln) was found. To our knowledge, this is the first report of p53 deletions in B-CLL. The two patients were elderly, and both had a rapidly progressive disease in the absence of unfavourable cytogenic abnormalities. These findings support a role for p53 alterations in the clinical course of some B-CLL patients.
authors: Centro di Studi Biochimici delle Patologie del Genoma Umano, Ferrara, Italy.
authors: D
authors: D
authors: Gandini
authors: G L
authors: GL
authors: Aguiari
authors: A
authors: A
authors: Cuneo
authors: R
authors: R
authors: Piva
authors: G L
authors: GL
authors: Castoldi
authors: L
authors: L
authors: del Senno
mesh_terms: D000368:Aged; D001483:Base Sequence; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion